Next Article in Journal
The Use of Point-of-Care Ultrasound (POCUS) in the Diagnosis of Deep Vein Thrombosis
Next Article in Special Issue
Height and Risk of Vitiligo: A Nationwide Cohort Study
Previous Article in Journal
Long-Term Outcome of Patients with TPO Mutations
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
JCM
Volume 10
Issue 17
10.3390/jcm10173901
jcm-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Review

Pili Torti: A Feature of Numerous Congenital and Acquired Conditions

by
Aleksandra Hoffmann
1,
Anna Waśkiel-Burnat
1,*,
Jakub Żółkiewicz
1,
Leszek Blicharz
1,
Adriana Rakowska
1,
Mohamad Goldust
2,
Małgorzata Olszewska
1 and
Lidia Rudnicka
1
1
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland
2
Department of Dermatology, University Medical Center of the Johannes Gutenberg University, 55122 Mainz, Germany
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2021, 10(17), 3901; https://doi.org/10.3390/jcm10173901
Submission received: 2 August 2021 / Revised: 20 August 2021 / Accepted: 25 August 2021 / Published: 30 August 2021
(This article belongs to the Special Issue Clinical Epidemiology of Skin Diseases)
Browse Figures
Versions Notes

Abstract

:
Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of alopecia (e.g., lichen planopilaris, discoid lupus erythematosus, dissecting cellulitis, folliculitis decalvans, alopecia areata) as well as neoplastic and systemic diseases (such as cutaneous T-cell lymphoma, scalp metastasis of breast cancer, anorexia nervosa, malnutrition, cataracts, and chronic graft-vs.-host disease). The condition may also be induced by several drugs (epidermal growth factor receptor inhibitors, oral retinoids, sodium valproate, and carbamide perhydrate). The diagnosis of pili torti is based on trichoscopic or microscopic examination. As pili torti is a marker of numerous congenital and acquired disorders, in every case, the search for the signs of underlying conditions is recommended.

1. Introduction

Pili torti, also known as “twisted hair”, was first described by Galewsky, and, independently, by Ronchese in 1932 [1,2]. It is characterized by the presence of the hair shaft, flattened at irregular intervals and twisted 180° along its long axis, with each twist being 0.4 to 0.9 mm wide and occurring in groups of 3 to 10 (Figure 1) [3].
Pili torti is a form of hair shaft disorder with increased fragility [4]. It is classified into inherited or acquired. A wide range of changes associated with pili torti suggest specific pathophysiological mechanisms [5]. In inherited forms, the twisting of the hair is caused by an unequal development of the outer root sheath cells. Cell vacuolation and the irregular thickness of the outer root sheath at the suprabulbar level induce an uneven molding of the inner root sheath and hair shaft [6]. In acquired forms, a perifollicular inflammation followed by fibrosis generates rotational forces and deforms the hair follicle [7]. The cross-sectional area of pili torti hair is significantly smaller than a normal hair sample (2210 ± 1090 vs. 3370 ± 821 (µm2); p < 0.001) and the tensile strength of pili torti is 2.1 times lower than that of normal hair [8]. No abnormalities in the hair cortex keratin within pili torti axis are observed [5].
Clinically, patients with pili torti have fragile, brittle, dry, and coarse hair. Patchy alopecia may develop. The scalp hair, especially in the occipital and temporal areas, is most commonly affected [9]. However, the eyebrows, eyelashes, axillary, and pubic hair may also be involved [9]. Usually, not all hair is affected by pili torti, and only a part of hair length may be changed [10]. Isolated pili torti may be occasionally found in the normal scalp. However, it may be associated with numerous local and systemic conditions [11,12].
In this review, we analyse current data about the possible causes of pili tori and discuss the underlying conditions. Available data on the management of pili torti are presented.

2. Inherited Pili Torti

Inherited pili torti may be categorized as: classic early onset (Ronchese type), late onset (Beare type), and pili torti associated with genetic diseases or syndromes [2].

2.1. Isolated Pili Torti

2.1.1. Early Onset (Ronchese) Type

The classic (Ronchese) form is an autosomal dominant or recessive condition, beginning in the early childhood [2,13]. The disease onset is between the third month and third year of life. Girls with blond hair are most commonly affected. In early onset pili torti, clusters of twists of hair are usually detected. The condition often improves with age, especially after puberty [2,13].

2.1.2. Late Onset (Beare) Type

Late onset type is an autosomal dominant disorder, typically occurring after puberty. It is more commonly observed in individuals with dark hair. Contrary to the early onset type, the twists of hair are usually single in the late onset type [2,13].

2.2. Pili Torti in Genetic Diseases or Syndromes

The list of genetic diseases and syndromes associated with pili torti is presented in Table 1. The most common conditions are described below.

2.2.1. Menkes Disease

Menkes disease, also known as kinky hair disease, is a rare neurodegenerative disease with X-linked recessive inheritance [45]. It is caused by different mutations in the ATPase Copper Transporting Alpha (ATP7A) gene, that result in the failure of copper absorption in the intestines followed by copper deficiency [46].
Pili torti is the most characteristic hair shaft defect in Menkes disease. The twists of hair shaft are probably due to the low activity of copper-dependent enzymes, which are important in creating disulfide bonds in hair keratin. Other hair shaft abnormalities are trichoclasis, trichorrhexis nodosa, and trichoptilosis [5].
In patients with Menkes disease, neurodegenerative signs, including seizures, feeding difficulties, hypotonia, and psychomotor retardation usually occur at 2–3 months of age [5]. Other common features are a jowly face with fair complexion, skin and joint laxity, arterial abnormalities, skeletal changes, and urinary tract infections caused by the diverticula of the bladder [5].
In therapeutic management, copper supplementation is the most important [5].

2.2.2. Björnstad Syndrome

Björnstad syndrome is an autosomal recessive or dominant condition caused by a missense mutation in the ubiquinol-cytochrome c reductase complex chaperone (BCS1L) gene [47]. It is characterized by the presence of pili torti and sensorineural hearing loss [47].
In Björnstad syndrome, pili torti develops during the first two years of life [20,21]. It usually affects exclusively the scalp hair. Eyebrows and eyelashes remain unaffected [20,21]. A positive correlation between severity of hair shaft abnormalities and hearing loss has been suggested [20].

2.2.3. Netherton Syndrome

Netherton syndrome is a rare autosomal recessive disorder characterized by a triad of symptoms: congenital ichthyosiform erythroderma, hair shaft abnormalities, and atopic diathesis [48,49]. It is caused by a mutation in the serine protease inhibitor Kazal type 5 (SPINK5) gene, which encodes lymphoepithelial Kazal-type-related inhibitor (LEKTI) [48,49].
Hair shaft abnormalities in Netherton syndrome are probably caused by disturbances in the keratinization process [50]. Pili torti is frequently observed, however trichorrhexis invaginata (“bamboo hair”) is a pathognomonic feature. Other hair shaft defects, such as trichorrhexis nodosa, trichoschisis, and trichoptilosis may also be detected [35,36]. Hair shaft abnormalities in Netherton syndrome tend to improve with age. Complete resolution may occur [51,52]. The presence of hair shaft abnormalities is one of diagnostic criteria of Netherton syndrome, which emphasizes their importance in the diagnostic process [53].

2.2.4. Bazex-Dupré-Christol Syndrome

Bazex-Dupré-Christol syndrome is an X-linked semidominant disorder characterized by follicular atrophoderma, multiple milia, hypotrichosis, hypohidrosis, and an early development of basal cell carcinomas [54,55]. It is caused by mutations in the actin-related protein T1 (ACTRT1) gene [56].
Hair shaft abnormalities may be an initial presentation of Bazex-Dupré-Christol syndrome, and may precede the development of basal cell carcinomas [57]. They are reported in 85% of cases, and include pili torti and trichorrhexis nodosa [58]. Hypotrichosis is usually diffuse in boys, whereas abnormal hair is admixed with normal hair in girls. Eyebrows may also be affected [57].

2.3. Pili Torti in Ectodermal Dysplasias

Ectodermal dysplasias include a heterogenous group of inherited disorders, characterized by congenital defects in one or more ectodermal structures and their appendages (hair, teeth, nails, and sweat glands) [59]. Pili torti has been reported in numerous ectodermal dysplasias (Table 2). The selected conditions are described below.

2.3.1. Rapp-Hodgkin Syndrome

Rapp-Hodgkin syndrome is a form of ectodermal dysplasia inherited as an autosomal dominant trait and characterized by anhidrotic ectodermal dysplasia, cleft lip, and cleft palate [80]. It is caused by the mutations in the Tumor Protein P63 (TP63) gene encoding p63 transcription factor [81].
It was hypothesized that hypoplastic adnexal structures, hypoplastic epidermis, folliculitis, atopy, and immunological disturbances in Rapp-Hodgkin syndrome contribute to scalp dermatitis, alopecia, and hair shaft abnormalities [82]. Hair shaft abnormalities in the disease include pili torti and pili canaliculi [74,75]. Scalp hair, eyebrows, eyelashes, and other body hair are affected. Alopecia usually does not affect the occipital and temporal areas [83,84]. Pili torti is one of the most distinctive clinical features in patients with Rapp-Hodgkin syndrome. Thus, it helps to discern it from other types of ectodermal dysplasia with dental abnormalities [85].
Other features of the Rapp-Hodgkin syndrome are narrow nose, small mouth, oligodontia or anodontia, conical teeth, anonychia, hyponychia, narrow or dystrophic nails, ear and ear canal abnormalities, lacrimal duct abnormalities, and genitourinary abnormalities [86,87].

2.3.2. Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome is a form of ectodermal dysplasia inherited in an autosomal dominant fashion caused by mutations in TP63 gene [60].
Pili torti is a common finding in the disease, observed in up to 59% of cases [60]. Pili trianguli et canaliculi, and irregular indentation and shallow grooves are also commonly detected [60].
Other clinical features in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome include abnormal fibrous strands of tissue that can partially or completely fuse the upper and lower eyelids (ankyloblepharon), mild to severe skin erosions, and cleft palate and/or cleft lip. Scalp erosions are considered as a main cause of morbidity in infants with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [88].

3. Acquired Pili Torti

Acquired pili torti may be associated with numerous dermatological and systemic conditions (Table 3) or may be drug-induced (Table 4).

3.1. Pili Torti Associated with Cicatricial Alopecias

The term cicatricial alopecia corresponds to a heterogeneous group of disorders characterized by irreversible destruction of hair follicles with subsequent scarring [109]. It results in abnormal hair shaft formation with the presence of pili torti [7]. To date, data considering pili torti in cicatricial alopecias are limited. However, it may be suggested that the number of pili torti correlates with the severity and duration of inflammatory/fibrosis process.
The clinical and trichoscopic characteristics of cicatricial alopecias associated with pili torti are presented in Table 5.

3.1.1. Pili Torti Associated with Primary Cicatricial Alopecias

Lichen Planopilaris

The classic variant of lichen planopilaris is one of the most common forms of primary cicatricial alopecia [110]. The pathogenesis of the disease has not been fully elucidated [109]. However, a misdirected cellular immune response to an unknown antigen in the basement membrane zone, leading to the destruction of follicular stem cells in the bulge region of the hair follicle has mainly been suggested [109].
Pili torti is identified in 31.82–51.9% of patients with lichen planopilaris [89,111]. It is usually present in long-lasting disease [89,111]. Other characteristic trichoscopic features of lichen planopilaris are perifollicular scaling and perifollicular erythema [112].

Frontal Fibrosing Alopecia

Frontal fibrosing alopecia is considered as a variant of lichen planopilaris [113,114]. The etiology and the pathogenesis of the disease are still unknown [114]. However, the role of sexual hormones in the development of frontal fibrosing alopecia has been proposed [114].
Pili torti is observed in 71.4% of patients with frontal fibrosing alopecia [89]. Its presence has been also described in the eyebrow area [115]. Similar to the classic variant of lichen planopilaris, perifollicular erythema and perifollicular scaling are the most characteristic trichoscopic features of frontal fibrosing alopecia [116].

Discoid Lupus Erythematosus

Discoid lupus erythematosus is the most common subtype of chronic cutaneous lupus erythematosus [114].
Pili torti is present in 7.3–14.3% of cases [89,92]. Other characteristic trichoscopic findings of discoid lupus erythematosus include follicular red dots, large yellow dots, and thick arborizing vessels [2].

Pseudopelade of Brocq

Pseudopelade of Brocq is a form of lymphocytic primary scarring alopecia. There is still no clear consensus whether the disease is a distinct entity or represents the end stage of any given cicatricial scalp disorder [109,114].
Pili torti is observed in 40% of patients with pseudopelade of Brocq [89]. Other trichoscopic findings of the disease are non-specific [89,117,118,119].

Folliculitis Decalvans

Folliculitis decalvans is a form of primary neutrophilic cicatricial alopecia [114]. The frequent association with Staphylococcus aureus infections suggests that the disease is caused by an excessive inflammatory response to staphylococcal antigens [109].
Pili torti is identified in 47.1% of patients with folliculitis decalvans, regardless of the severity and stage of the disease [89,120]. Other characteristic trichoscopic features of the disease include hair tufts consisting of 5–20 hairs surrounded by yellowish tubular scaling [117].

Dissecting Cellulitis

Dissecting cellulitis is an infrequent form of primary neutrophilic cicatricial alopecia characterized by the occlusion of follicular openings [121].
Pili torti is present in 16.7% of cases [89]. The most characteristic trichoscopic findings of dissecting cellulitis are 3D (soap bubble) yellow dots [117,122].

Central Centrifugal Cicatricial Alopecia

Central centrifugal cicatricial alopecia is a form of lymphocyte-predominant cicatricial alopecia [123]. The pathogenesis of the disease has not been fully described. The role of genetic predisposition, use of chemical straighteners, traction hairstyles, bacterial or fungal infections of the scalp have been suggested [109].
Pili torti was described in a few cases of central centrifugal cicatricial alopecia [91]. The most specific trichoscopic feature of the disease is peripilar gray/white halo [124].

3.1.2. Pili Torti Associated with Secondary Cicatricial Alopecias

Traction Alopecia

Traction alopecia is a form of acquired hair loss that results from persistent, pulling forces on the hair follicles associated with traction-inducing hairstyles [125]. In its early phase, areas of non-scarring hair loss are present. Subsequently, the disease may progress to scarring alopecia [125].
Pili torti is reported in 56% of patients with traction alopecia, and is present during the scarring stage of the disease [93]. Other trichoscopic findings of traction alopecia are non-specific [93].

Linear Scleroderma en Coup de Sabre

Linear scleroderma “en coup de sabre”, a form of linear morphea, is one of the cause of secondary cicatricial alopecia.
In linear scleroderma “en coup de sabre”, diffuse distribution of pili torti is observed [95]. Moreover, trichoscopy reveals scattered black dots, broken hairs, and short thick linear and branching tortuous vessels on the periphery of the lesion [95].

3.2. Pili Torti in Non-Cicatricial Alopecias

Pili Torti in Alopecia Areata

Alopecia areata is an autoimmune form of non-scarring hair loss that may affect any hair-bearing area. It is caused by the infiltration of T helper cells, cytolytic T cells, natural killer cells, and plasmacytoid dendritic cells around the lower part of the hair bulb during the anagen phase, which induces the collapse of the hair follicle immune privilege and hair loss [126].
The pathogenesis of pili torti in alopecia areata has not been described [90]. It may be hypothesized that it results from perifollicular infiltrates that induce pressure on the epithelium and disrupt hair shaft formation. Pili torti in alopecia areata was reported in one study conducted by Park et al. [90] with the frequency 6% and 2% of patients with localized and diffuse hair loss, respectively. The most characteristic trichoscopic features of alopecia areata are exclamation mark hairs, while yellow dots and vellus hairs [2].

3.3. Pili Torti in Malignancies

Pili torti was described as the most common trichoscopic feature of the erythrodermic variants of cutaneous T-cell lymphoma present in 81% of cases [98]. It is characterized by high sensitivity and specificity of 81% and 93%, respectively [98]. It was hypothesized that in cutaneous lymphomas, pili torti results from folliculotropic inflammation without or with the mucinous degeneration of the hair follicle, which induces pressure on the epithelium, and, thus, affects hair shaft formation [98].
Moreover, one case report described a patient with scalp metastases of breast cancer, with the presence of pili torti on trichoscopic examination [97].

3.4. Drug-Induced Pili Torti

Associations between pili torti and numerous drugs were described in the literature [104,105,106,107,108].
Pili torti is most commonly described after the use of epidermal growth factor receptor inhibitors. In an animal model, it was reported that epidermal growth factor receptor inhibitors impair DNA integrity and lead to apoptosis of both keratinocytes (interfollicular epidermis, outer root sheath, and matrix) and non-proliferative, differentiated cells of the hair shaft [127]. Inhibition of epidermal growth factor receptor pathways also interferes with transcription factor expression. Thus, it impairs proper differentiation cues for hair shaft cells, resulting in loss of the medulla layer. Moreover, in mice harboring a disruption of the epidermal growth factor receptor-allele it was showed that hair follicles fail to enter catagen, and remain in an aberrant anagen state [104]. Subsequently, the thinning or loss of the outer and inner root sheaths, together with perifollicular inflammation and fibrosis are detected. In a case series of patients treated with erlotinib, histological examination of the scalp showed irregular thinning of the outer root sheath and disintegration of the inner root sheath [104].
Other drugs which may induce pili torti are oral retinoids, sodium valproate, and carbamide perhydrate.
Retinoic acid plays an important role in hair follicle formation and patterning through the regulation of the homeobox genes [128]. It was suggested that retinoids influence the keratinization of the inner root sheaths of the hair follicle in the anagen phase, which leads to pili torti formation [129].
The mechanism of pili torti formation after valproate use is unclear. It may be associated with valproate chelating properties (copper, zinc, and magnesium) as well as the inhibition of metalloproteins [130].
Carbamide peroxide is a source of hydrogen peroxide, which affects the hair shaft by oxidation and decomposition of cysteine (which accounts for 20% of the amino acids of the hair keratin) as well as the formation of cysteic acid. Moreover, carbamide peroxide destroys the majority of the disulfide bridges of hair keratin [108].

3.5. Other Secondary Causes of Pili Torti

Pili torti was also described in other systemic conditions, such as anorexia nervosa [100,101], malnutrition [103], cataracts [99], and chronic graft-vs.-host disease [102].

4. Diagnosis

The diagnosis of pili torti is based on trichoscopic and microscopic examination.
Trichoscopy, hair and scalp dermoscopy, is a rapid technique that is useful in the diagnosis of scalp and hair diseases as well as genetic disorders, including ectodermal dysplasias [10,131]. It can be performed with a manual dermoscope (10 magnification) or a videodermoscope (20–1000 magnification) [132]. This noninvasive method replaced light microscopy, which required pulling of multiple hairs for investigation. This is particularly burdensome in cases, where only few hairs might be affected [9]. In pili torti, low magnification trichoscopy reveals the hair shafts bent at different angles and at irregular intervals. Regular twists of the hair shaft along the long axis are observed at high magnification (Figure 2).
Microscopic examination shows groups of three or four regularly spaced twists at irregular intervals along the shaft [10].
Genetic diseases and syndromes should be excluded in every patient with pili torti. The search of other signs of underlying conditions should be performed in the case of acquired pili torti.

5. Treatment

There is no specific treatment of pili torti. The avoidance of trauma to the hair is recommended. Other forms of management include sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, and dying. Gentle shampoos may be beneficial [104,133].
Congenital pili torti may improve spontaneously after puberty. Drug-induced cases tend to resolve after the discontinuation of the offending agent [105,106]. In regard to acquired pili torti, the treatment of the underlying condition is most important.
Efficacy of pharmacological treatment in pili torti is limited [26]. Topical minoxidil has been suggested as a beneficial therapeutic option for patients with hair shaft abnormalities with increased fragility. However, it only has an impact on hair density and does not induce a causal treatment.

6. Conclusions

Pili torti is a rare condition, which may be associated with numerous congenital or acquired conditions. In every case of pili torti, the identification of the underlying disorder determines the therapeutic approach and prognosis.

Author Contributions

Conceptualization, A.W.-B. and L.R.; methodology, A.W.-B., A.H. and M.G.; investigation, A.H., J.Ż. and L.B.; data curation, A.H., J.Ż. and A.R.; writing—original draft preparation, A.H., A.W.-B. and M.O.; writing—review and editing, L.R., J.Ż., L.B., M.G. and A.R.; supervision, L.R. and M.O. All authors have read and agreed to the published version of the manuscript.

Funding

This research received no external funding.

Institutional Review Board Statement

Not applicable.

Informed Consent Statement

Not applicable.

Data Availability Statement

Not applicable.

Acknowledgments

Authors are indebted to J. Taczała, for preparation of the figure of pili torti.

Conflicts of Interest

The authors declare no conflict of interest.

References

  1. Ronchese, F. Twisted Hairs (Pili Torti). Arch. Dermatol. Syphilol. 1932, 26, 98–109. [Google Scholar] [CrossRef]
  2. Rudnicka, L.; Olszewska, M.; Rakowska, A. Atlas of Trichoscopy, 1st ed.; Springer: London, UK, 2012. [Google Scholar]
  3. Mirmirani, P.; Samimi, S.S.; Mostow, E. Pili torti: Clinical findings, associated disorders, and new insights into mechanisms of hair twisting. Cutis 2009, 84, 143–147. [Google Scholar]
  4. Mirmirani, P.; Huang, K.P.; Price, V.H. A practical, algorithmic approach to diagnosing hair shaft disorders. Int. J. Dermatol. 2011, 50, 1–12. [Google Scholar] [CrossRef]
  5. Yang, J.J.; Cade, K.V.; Rezende, F.C.; Pereira, J.M.; Pegas, J.R. Clinical presentation of pili torti--Case report. An. Bras. Dermatol. 2015, 90, 29–31. [Google Scholar] [CrossRef] [Green Version]
  6. Maruyama, T.; Toyoda, M.; Kanei, A.; Morohashi, M. Pathogenesis in pili torti: Morphological study. J. Dermatol. Sci. 1994, 7, S5–S12. [Google Scholar] [CrossRef]
  7. Whiting, D.A. Hair shaft defects. In Disorders of Hair Growth: Diagnosis and Treatment, 2nd ed.; Olsen, E.A., Ed.; McGraw Hill: New York, NY, USA, 2003; pp. 123–175. [Google Scholar]
  8. Marubashi, Y.; Yanagishita, T.; Muto, J.; Taguchi, N.; Sugiura, K.; Kawamoto, Y.; Akiyama, M.; Watanabe, D. Morphological analyses in fragility of pili torti with Björnstad syndrome. J. Dermatol. 2017, 44, 455–458. [Google Scholar] [CrossRef]
  9. Rudnicka, L.; Olszewska, M.; Waśkiel, A.; Rakowska, A. Trichoscopy in Hair Shaft Disorders. Dermatol. Clin. 2018, 36, 421–430. [Google Scholar] [CrossRef]
  10. Rakowska, A.; Slowinska, M.; Kowalska-Oledzka, E.; Rudnicka, L. Trichoscopy in genetic hair shaft abnormalities. J. Dermatol. Case Rep. 2008, 2, 14–20. [Google Scholar] [CrossRef]
  11. Tosti, A. Dermoscopy of the Hair and Nails, 2nd ed.; CRC Press: Boca Raton, FL, USA, 2016. [Google Scholar]
  12. Rouse, C.; Siegfried, E.; Breer, W.; Nahass, G. Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: Further characterization. Arch. Dermatol. 2004, 140, 850–855. [Google Scholar] [CrossRef] [Green Version]
  13. Rogers, M. Hair shaft abnormalities: Part I. Australas J. Dermatol. 1995, 36. [Google Scholar] [CrossRef]
  14. Shapira, S.K.; Neish, A.S.; Pober, B.R. Unknown syndrome in sibs: Pili torti, growth delay, developmental delay, and mild neurological abnormalities. J. Med. Genet. 1992, 29, 509–510. [Google Scholar] [PubMed]
  15. Sharma, P.; Reichert, M.; Lu, Y.; Markello, T.C.; Adams, D.R.; Steinbach, P.J.; Fuqua, B.K.; Parisi, X.; Kaler, S.G.; Vulpe, C.D.; et al. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS Genet. 2019, 15, e1008143. [Google Scholar] [CrossRef] [PubMed]
  16. Sorge, G.; Pavone, L.; Polizzi, A.; Mauceri, L.; Leonardi, R.M.; Tripi, T.; Opitz, J.M. Another “new” form, the palagonia type of acrofacial dysostosis in a Sicilian family. Am. J. Med. Genet. 1997, 69, 388–394. [Google Scholar] [CrossRef]
  17. Phillips, M.E.; Barrie, H.; Cream, J.J. Arginosuccinic aciduria with pili torti. J. R. Soc. Med. 1981, 74, 221–222. [Google Scholar] [CrossRef] [PubMed]
  18. Basel-Vanagaite, L.; Attia, R.; Ishida-Yamamoto, A.; Rainshtein, L.; Ben Amitai, D.; Lurie, R.; Pasmanik-Chor, M.; Indelman, M.; Zvulunov, A.; Saban, S.; et al. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am. J. Hum. Genet. 2007, 80, 467–477. [Google Scholar] [CrossRef] [Green Version]
  19. Yung, A.; Newton-Bishop, J.A. A case of Bazex-Dupre-Christol syndrome associated with multiple genital trichoepitheliomas. Br. J. Dermatol. 2005, 153, 682–684. [Google Scholar] [CrossRef]
  20. Richards, K.A.; Mancini, A.J. Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome. J. Am. Acad. Dermatol. 2002, 46, 301–303. [Google Scholar] [CrossRef]
  21. Petit, A.; Dontenwille, M.M.; Bardon, C.B.; Civatte, J. Pili torti with congenital deafness (Bjornstad’s syndrome)--report of three cases in one family, suggesting autosomal dominant transmission. Clin. Exp. Dermatol. 1993, 18, 94–95. [Google Scholar] [CrossRef]
  22. Patel, H.P.; Unis, M.E. Pili torti in association with citrullinemia. J. Am. Acad. Dermatol. 1985, 12, 203–206. [Google Scholar] [CrossRef]
  23. Silengo, M.; Valenzise, M.; Pagliardini, S.; Spada, M. Hair changes in congenital disorders of glycosylation (CDG type 1). Eur. J. Pediatric 2003, 162, 114–115. [Google Scholar] [CrossRef]
  24. Kurwa, A.R.; Abdel-Aziz, A.H. Pili torti-congenital and acquired. Acta Dermatol. Venereol. 1973, 53, 385–392. [Google Scholar] [PubMed]
  25. Hoeger, P.; Kinsler, V.; Yan, A.; Harper, J.; Oranje, A.; Bodemer, C.; Larralde, M.; Luk, D.; Mendiratta, V.; Purvis, D. Harper’s Textbook of Pediatric Dermatology, 1st ed.; Wiley-Blackwell: Oxford, UK, 2019. [Google Scholar]
  26. McMichael, A.J.; Hordinsky, M.K. Hair and Scalp Disorders: Medical, Surgical, and Cosmetic Treatments, 2nd ed.; CRC Press: London, UK, 2018; p. 325. [Google Scholar]
  27. Crandall, B.F.; Samec, L.; Sparkes, R.S.; Wright, S.W. A familial syndrome of deafness, alopecia, and hypogonadism. J. Pediatric 1973, 82, 461–465. [Google Scholar] [CrossRef]
  28. Rybojad, M.; Moraillon, I.; Bonafé, J.L.; Cambon, L.; Evrard, P. Pilar dysplasia: An early marker of giant axonal neuropathy. Ann. Dermatol. Venereol. 1998, 125, 892–893. [Google Scholar]
  29. Schaffer, J.V.; Bazzi, H.; Vitebsky, A.; Witkiewicz, A.; Kovich, O.I.; Kamino, H.; Shapiro, L.S.; Amin, S.P.; Orlow, S.J.; Christiano, A.M. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J. Investig. Dermatol. 2006, 126, 1286–1291. [Google Scholar] [CrossRef] [Green Version]
  30. Zlotogorski, A.; Marek, D.; Horev, L.; Abu, A.; Ben-Amitai, D.; Gerad, L.; Ingber, A.; Frydman, M.; Reznik-Wolf, H.; Vardy, D.A.; et al. An autosomal recessive form of monilethrix is caused by mutations in DSG4: Clinical overlap with localized autosomal recessive hypotrichosis. J. Investig. Dermatol. 2006, 126, 1292–1296. [Google Scholar] [CrossRef] [Green Version]
  31. Lurie, R.; Ben-Amitai, D.; Laron, Z. Laron syndrome (primary growth hormone insensitivity): A unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair. Dermatology 2004, 208, 314–318. [Google Scholar] [CrossRef]
  32. Spiegl, B.; Hundeiker, M. Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna). Fortschr. Med. 1979, 97, 2018–2022. [Google Scholar]
  33. Pierini, A.M.; Ortonne, J.P.; Floret, D. Cutaneous manifestations of McCune-Albright syndrome: Report of a case (author’s transl). Ann. Dermatol. Venereol. 1981, 108, 969–976. [Google Scholar]
  34. Bodemer, C.; Rotig, A.; Rustin, P.; Cormier, V.; Niaudet, P.; Saudubray, J.M.; Rabier, D.; Munnich, A.; de Prost, Y. Hair and skin disorders as signs of mitochondrial disease. Pediatrics 1999, 103, 428–433. [Google Scholar] [CrossRef]
  35. Srinivas, S.M.; Hiremagalore, R.; Suryanarayan, S.; Budamakuntala, L. Netherton syndrome with pili torti. Int. J. Trichol. 2013, 5, 225–226. [Google Scholar] [CrossRef] [Green Version]
  36. Kharge, P.; Shanmukhappa, A.; Shivaram, B.; Budamakuntala, L. Comèl–Netherton’s syndrome in siblings. Indian J. Paediatr. Dermatol. 2016, 17. [Google Scholar] [CrossRef]
  37. Ronce, N.; Moizard, M.P.; Robb, L.; Toutain, A.; Villard, L.; Moraine, C. A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. Am. J. Hum. Genet. 1997, 61, 233–238. [Google Scholar] [CrossRef] [Green Version]
  38. Mevorah, B.; Goldberg, I.; Sprecher, E.; Bergman, R.; Metzker, A.; Luria, R.; Gat, A.; Brenner, S. Olmsted syndrome: Mutilating palmoplantar keratoderma with periorificial keratotic plaques. J. Am. Acad. Dermatol. 2005, 53, S266–S272. [Google Scholar] [CrossRef] [PubMed]
  39. Mevorah, B.; Orion, E.; De Viragh, P.; Bergman, R.; Gat, A.; Legume, C.; Van Neste, D.J.J.; Brenner, S. Peeling skin syndrome with hair changes. Dermatology 1998, 197, 373–376. [Google Scholar] [CrossRef]
  40. Miteva, M.; Tosti, A. Dermatoscopy of hair shaft disorders. J. Am. Acad. Dermatol. 2013, 68, 473–481. [Google Scholar] [CrossRef]
  41. Pietrzak, A.; Bartosinska, J.; Filip, A.A.; Rakowska, A.; Adamczyk, M.; Szumilo, J.; Kanitakis, J. Steatocystoma multiplex with hair shaft abnormalities. J. Dermatol. 2015, 42, 521–523. [Google Scholar] [CrossRef]
  42. Goulet, O.; Vinson, C.; Roquelaure, B.; Brousse, N.; Bodemer, C.; Cezard, J.P. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J. Rare Dis. 2008, 3, 6. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  43. Tay, C.H. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch. Dermatol. 1971, 104, 4–13. [Google Scholar] [CrossRef]
  44. Botta, E.; Nardo, T.; Broughton, B.C.; Marinoni, S.; Lehmann, A.R.; Stefanini, M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am. J. Hum. Genet. 1998, 63, 1036–1048. [Google Scholar] [CrossRef] [Green Version]
  45. Tonnesen, T.; Kleijer, W.J.; Horn, N. Incidence of Menkes disease. Hum. Genet. 1991, 86, 408–410. [Google Scholar] [CrossRef]
  46. Horn, N.; Wittung-Stafshede, P. ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle. Biomedicines 2021, 9, 391. [Google Scholar] [CrossRef] [PubMed]
  47. Hinson, J.T.; Fantin, V.R.; Schönberger, J.; Breivik, N.; Siem, G.; McDonough, B.; Sharma, P.; Keogh, I.; Godinho, R.; Santos, F.; et al. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N. Engl. J. Med. 2007, 356, 809–819. [Google Scholar] [CrossRef] [PubMed]
  48. Chavanas, S.; Bodemer, C.; Rochat, A.; Hamel-Teillac, D.; Ali, M.; Irvine, A.D.; Bonafe, J.L.; Wilkinson, J.; Taieb, A.; Barrandon, Y.; et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat. Genet. 2000, 25, 141–142. [Google Scholar] [CrossRef] [PubMed]
  49. Sprecher, E.; Chavanas, S.; DiGiovanna, J.J.; Amin, S.; Nielsen, K.; Prendiville, J.S.; Silverman, R.; Esterly, N.B.; Spraker, M.K.; Guelig, E.; et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis. J. Investig. Dermatol. 2001, 117, 179–187. [Google Scholar] [CrossRef] [Green Version]
  50. Krafchik, B.R.; Toole, J.W. What is Netherton’s syndrome? Int. J. Dermatol. 1983, 22, 459–462. [Google Scholar] [CrossRef]
  51. Smith, D.L.; Smith, J.G.; Wong, S.W.; deShazo, R.D. Netherton’s syndrome: A syndrome of elevated IgE and characteristic skin and hair findings. J. Allergy Clin. Immunol. 1995, 95, 116–123. [Google Scholar] [CrossRef]
  52. Ancuta, N.; Persa, G.; Caius, S. Netherton syndrome—A small series study. Is there a correlation between atopy manifestations and the presence of multiple hair shaft dystrophies? RoJCED 2017, 4, 28–32. [Google Scholar]
  53. Schmuth, M.; Martinz, V.; Janecke, A.R.; Fauth, C.; Schossig, A.; Zschocke, J.; Gruber, R. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur. J. Hum. Genet. 2013, 21, 123–133. [Google Scholar] [CrossRef] [Green Version]
  54. Bazex, A.; Dupre, A.; Christol, B. Follicular atrophoderma, baso-cellular proliferations and hypotrichosis. Ann. Dermatol. Syphiligr. 1966, 93, 241–254. [Google Scholar]
  55. Viksnins, P.; Berlin, A. Follicular atrophoderma and basal cell carcinomas: The Bazex syndrome. Arch. Dermatol. 1977, 113, 948–951. [Google Scholar] [CrossRef]
  56. Bal, E.; Park, H.S.; Belaid-Choucair, Z.; Kayserili, H.; Naville, M.; Madrange, M.; Chiticariu, E.; Hadj-Rabia, S.; Cagnard, N.; Kuonen, F.; et al. Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. Nat. Med. 2017, 23, 1226–1233. [Google Scholar] [CrossRef] [PubMed]
  57. Moreau-Cabarrot, A.; Bonafe, J.L.; Hachich, N.; Jalby, B.C.; Aubert, G.; Rolland, M.; Bazex, J. Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupre-Christol syndrome). A study in 2 families. Ann. Dermatol. Venereol. 1994, 121, 297–301. [Google Scholar] [PubMed]
  58. Tiodorovic-Zivkovic, D.; Zalaudek, I.; Ferrara, G.; Giorgio, C.M.; Di Nola, K.; Procaccini, E.M.; Argenziano, G. Clinical and dermatoscopic findings in Bazex-Dupre-Christol and Gorlin-Goltz syndromes. J. Am. Acad. Dermatol. 2010, 63, 722–724. [Google Scholar] [CrossRef]
  59. Itin, P.H. Etiology and pathogenesis of ectodermal dysplasias. Am. J. Med. Genet. A 2014, 164A, 2472–2477. [Google Scholar] [CrossRef]
  60. Dishop, M.K.; Bree, A.F.; Hicks, M.J. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am. J. Med. Genet. A 2009, 149a, 1935–1941. [Google Scholar] [CrossRef]
  61. Campos-Domínguez, M.; Feito-Rodríguez, M.; Molina-López, I.; Lucas-Laguna, R.D.; Martínez-Glez, V.; Suárez-Fernández, R. A newmutation of smarcad1 in a case of basan syndrome (congenital milia and lack of fingerprints). In Proceedings of the 13th World Congress of Pediatric Dermatology, Chicago, IL, USA, 6–9 July 2017; p. S18. [Google Scholar]
  62. Calzavara-Pinton, P.; Carlino, A.; Benetti, A.; De Panfilis, G. Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. Dermatologica 1991, 182, 184–187. [Google Scholar] [CrossRef] [PubMed]
  63. Abramovits-Ackerman, W.; Bustos, T.; Simosa-Leon, V.; Fernandez, L.; Ramella, M. Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. J. Am. Acad. Dermatol. 1992, 27, 917–921. [Google Scholar] [CrossRef]
  64. Wawrzycki, B.; Pietrzak, A.; Chodorowska, G.; Filip, A.A.; Petit, V.; Rudnicka, L.; Dybiec, E.; Rakowska, A.; Sobczynska-Tomaszewska, A.; Kanitakis, J. Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation. Postepy Dermatol. Alergol. 2019, 36, 358–364. [Google Scholar] [CrossRef] [Green Version]
  65. Bree, A.F.; Grange, D.K.; Hicks, M.J.; Goltz, R.W. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am. J. Med. Genet. C Semin. Med. Genet. 2016, 172c, 44–51. [Google Scholar] [CrossRef]
  66. Kantaputra, P.; Intachai, W.; Kawasaki, K.; Ohazama, A.; Carlson, B.; Quarto, N.; Pruksachatkun, C.; Chuamanochan, M. Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. J. Dermatol. 2020, 47, e230–e232. [Google Scholar] [CrossRef]
  67. Hirano, S.A.; Mason, A.R.; Salkey, K.; Williams, J.V.; Pariser, D.M. Light microscopic hair shaft analysis in ectodermal dysplasia syndromes. Pediatr Dermatol. 2012, 29, 414–420. [Google Scholar] [CrossRef]
  68. Sanches, S.; Rebellato, P.R.O.; Fabre, A.B.; Campos, G.L.M. Do you know this syndrome? Clouston syndrome. An. Bras. Dermatol. 2017, 92, 417–418. [Google Scholar] [CrossRef]
  69. Thoden, C.J.; Ryoppy, S.; Kuitunen, P. Oculodentodigital dysplasia syndrome. Report of four cases. Acta Paediatr. Scand. 1977, 66, 635–638. [Google Scholar] [CrossRef] [PubMed]
  70. Adamski, H.; Chevrant-Breton, J.; Odent, S.; Patoux-Pibouin, M.; Le Marec, B.; Laudren, A.; Urvoy, M. Hair shaft dysplasia in oculo-dento-digital syndrome. Report of a mother-daughter case. Ann. Dermatol. Venereol. 1994, 121, 694–699. [Google Scholar]
  71. Leachman, S.A.; Kaspar, R.L.; Fleckman, P.; Florell, S.R.; Smith, F.J.; McLean, W.H.; Lunny, D.P.; Milstone, L.M.; van Steensel, M.A.; Munro, C.S.; et al. Clinical and pathological features of pachyonychia congenita. J. Investig. Dermatol. Symp. Proc. 2005, 10, 3–17. [Google Scholar] [CrossRef] [Green Version]
  72. Irvine, A.D.; McLean, W.H. Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br. J. Dermatol. 1999, 140, 815–828. [Google Scholar] [CrossRef] [PubMed]
  73. Munro, C.S. Pachyonychia congenita: Mutations and clinical presentations. Br. J. Dermatol. 2001, 144, 929–930. [Google Scholar] [CrossRef] [PubMed]
  74. Silengo, M.C.; Davi, G.F.; Bianco, R.; Costa, M.; DeMarco, A.; Verona, R.; Franceschini, P. Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. Clin. Genet. 1982, 21, 297–300. [Google Scholar] [CrossRef]
  75. Salinas, C.F.; Montes, G.M. Rapp-Hodgkin syndrome: Observations on ten cases and characteristic hair changes (pili canaliculi). Birth Defects Orig. Artic. Ser. 1988, 24, 149–168. [Google Scholar] [PubMed]
  76. Reed, W.B.; Brown, A.C.; Sugarman, G.I.; Schlesinger, L. The REEDS syndrome. Birth Defects Orig. Artic. Ser. 1975, 11, 61–73. [Google Scholar]
  77. Giorgini, S.; Battini, M.L.; Martinelli, C.; Melli, M.C.; Farella, V.; Policarpi, F. Salamon syndrome: A case report. Ann. Ital. Dermatol. Clin. E Sper. 1992, 46, 217–220. [Google Scholar]
  78. Szepetiuk, G.; Vanhooteghem, O.; Muller, G.; Stene, J.J.; Nikkels, A.F. Schöpf-Schulz-Passarge syndrome with pili torti: A new association? Eur. J. Dermatol. 2009, 19, 517–518. [Google Scholar] [CrossRef] [PubMed]
  79. Pinheiro, M.; Freire-Maia, N. Trichodysplasia-xeroderma: An autosomal dominant condition. Clin. Genet. 1987, 31, 337–342. [Google Scholar] [CrossRef] [PubMed]
  80. Rapp, R.S.; Hodgkin, W.E. Anhidrotic ectodermal dysplasia: Autosomal dominant inheritance with palate and lip anomalies. J. Med. Genet. 1968, 5, 269–272. [Google Scholar] [CrossRef] [Green Version]
  81. Vera-Carbonell, A.; Moya-Quiles, M.R.; Ballesta-Martinez, M.; Lopez-Gonzalez, V.; Bafalliu, J.A.; Guillen-Navarro, E.; Lopez-Exposito, I. Rapp-Hodgkin syndrome and SHFM1 patients: Delineating the p63-Dlx5/Dlx6 pathway. Gene 2012, 497, 292–297. [Google Scholar] [CrossRef]
  82. Park, S.W.; Yong, S.L.; Martinka, M.; Shapiro, J. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color. J. Am. Acad. Dermatol. 2005, 53, 729–735. [Google Scholar] [CrossRef]
  83. Moerman, P.; Fryns, J.P. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Am. J. Med. Genet. 1996, 63, 479–481. [Google Scholar] [CrossRef]
  84. Breslau-Siderius, E.J.; Lavrijsen, A.P.; Otten, F.W.; van der Schroeff, J.G.; Swart, J.G. The Rapp-Hodgkin syndrome. Am. J. Med. Genet. 1991, 38, 107–110. [Google Scholar] [CrossRef]
  85. Crawford, P.J.M.; Aldred, M.J.; Clarke, A.; Tso, M.S.Y. Rapp-Hodgkin syndrome: An ectodermal dysplasia involving the teeth, hair, nails, and palate. Oral Surg. Oral Med. Oral Pathol. 1989, 67, 50–62. [Google Scholar] [CrossRef]
  86. Witkop, C.J., Jr.; Brearley, L.J.; Gentry, W.C., Jr. Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes. Oral Surg. Oral Med. Oral Pathol. 1975, 39, 71–86. [Google Scholar] [CrossRef]
  87. Tosun, G.; Elbay, U. Rapp-Hodgkin syndrome: Clinical and dental findings. J. Clin. Pediatric Dent. 2009, 34, 71–75. [Google Scholar] [CrossRef]
  88. Fete, M.; vanBokhoven, H.; Clements, S.E.; McKeon, F.; Roop, D.R.; Koster, M.I.; Missero, C.; Attardi, L.D.; Lombillo, V.A.; Ratovitski, E.; et al. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. Am. J. Med. Genet. A 2009, 149A, 1885–1893. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  89. Karadag Kose, O.; Gulec, A.T. Evaluation of a Handheld Dermatoscope in Clinical Diagnosis of Primary Cicatricial Alopecias. Dermatol. Ther. 2019, 9, 525–535. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  90. Park, J.; Kim, J.I.; Kim, H.U.; Yun, S.K.; Kim, S.J. Trichoscopic Findings of Hair Loss in Koreans. Ann. Dermatol. 2015, 27, 539–550. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  91. Kaur, A.; Batrani, M.; Kubba, A.; Kubba, R. Central centrifugal cicatricial alopecia in Asian scalp: Beyond boundaries and race. In Proceedings of the American Academy of Dermatology 2019 Annual Meeting, Washington, DC, USA, 1–5 March 2019; p. AB179. [Google Scholar]
  92. Gomez-Quispe, H.; Elena de Las Heras-Alonso, M.; Lobato-Berezo, A.; Velasco-Tamariz, V.; Pindado-Ortega, C.; Moreno-Arrones, O.M.; Vano-Galvan, S.; Saceda-Corralo, D. Trichoscopic findings of discoid lupus erythematosus alopecia: A cross-sectional study. J. Am. Acad. Dermatol. 2021, 84, 804–806. [Google Scholar] [CrossRef]
  93. Karadağ Köse, Ö.; Borlu, M. Evaluation of trichoscopic findings of tractional alopecia. Türkiye Klin. Derm. Derg. 2019, 29, 7–14. [Google Scholar] [CrossRef] [Green Version]
  94. Montoya, C.L.; Calvache, N. Linear Morphea Alopecia: New Trichoscopy Findings. Int. J. Trichol. 2017, 9, 92–93. [Google Scholar] [CrossRef]
  95. Saceda-Corralo, D.; Tosti, A. Trichoscopic Features of Linear Morphea on the Scalp. Ski. Appendage Disord. 2018, 4, 31–33. [Google Scholar] [CrossRef]
  96. Svigos, K.; Criscito, M.; Marji, J.; Brinster, N.K.; Lo Sicco, K. Linear morphea with evidence of hair regrowth. In Proceedings of the SID 2020 Annual Meeting, Virtual Meeting, 13–16 May 2020; p. S9. [Google Scholar]
  97. Gajda, P.; Rakowska, A.; Czuwara, J.; Samochocki, Z. Ogniska łysienia jako pierwszy objaw wznowy raka sutka? Dermatol. Rev. 2018, 105, 682–683. [Google Scholar] [CrossRef]
  98. Rakowska, A.; Jasińska, M.; Sikora, M.; Czuwara, J.; Gajda-Mróz, P.; Warszawik-Hendzel, O.; Kwiatkowska, M.; Waśkiel-Burnat, A.; Olszewska, M.; Rudnicka, L. Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy. Sci. Rep. 2021, 11, 282. [Google Scholar] [CrossRef]
  99. Gold, S.C.; Delaney, T.J. Familial acne conglobata, hidradenitis suppurativa, pili torti and cataracts*. Br. J. Dermatol. 1974, 91, 54–57. [Google Scholar] [CrossRef]
  100. Lurie, R.; Danziger, Y.; Kaplan, Y.; Sulkes, J.; Abramson, E.; Mimouni, M. Acquired pili torti—A structural hair shaft defect in anorexia nervosa. Cutis 1996, 57, 151–156. [Google Scholar]
  101. Strumia, R.; Borghi, A.; Colombo, E.; Manzato, E.; Gualandi, M. Low prevalence of twisted hair in anorexia nervosa. Clin. Exp. Dermatol. 2005, 30, 349–350. [Google Scholar] [CrossRef] [PubMed]
  102. Penzi, L.R.; Saavedra, A.; Senna, M.M. Long-standing pili torti in 2 patients with chronic graft-vs.-host disease. Jaad Case Rep. 2018, 4, 44–46. [Google Scholar] [CrossRef] [Green Version]
  103. Evans, J.B.; Hastings, J.G.; Kaffenberger, B.H. Acquired Pili Torti. Jama Dermatol. 2019, 155, 488. [Google Scholar] [CrossRef] [PubMed]
  104. Kremer, N.; Martinez, H.; Leshem, Y.A.; Hodak, E.; Zer, A.; Brenner, B.; Amitay-Laish, I. The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series. J. Am. Acad. Dermatol. 2020, (in press). [Google Scholar] [CrossRef]
  105. Pirmez, R.; Piñeiro-Maceira, J.; Gonzalez, C.G.; Miteva, M. Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib. Int. J. Trichol. 2016, 8, 186–187. [Google Scholar] [CrossRef] [Green Version]
  106. Hays, S.B.; Camisa, C. Acquired pili torti in two patients treated with synthetic retinoids. Cutis 1985, 35, 466–468. [Google Scholar]
  107. Caneppele, S.; Mazereeuw-Hautier, J.; Bonafé, J.L. Sodium valproate-induced kinky hair syndrome. Ann. Dermatol. Venereol. 2001, 128, 134–135. [Google Scholar]
  108. Bolck, F.; Ziegler, V.; Sieler, H. Bleaching of hair by carbamide perhydrate. Contact Dermat. 1977, 3, 214–215. [Google Scholar] [CrossRef]
  109. Kanti, V.; Röwert-Huber, J.; Vogt, A.; Blume-Peytavi, U. Cicatricial alopecia. Jddg J. Dtsch. Dermatol. Ges. 2018, 16, 435–461. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  110. Errichetti, E.; Figini, M.; Croatto, M.; Stinco, G. Therapeutic management of classic lichen planopilaris: A systematic review. Clin. Cosmet. Investig. Dermatol. 2018, 11, 91–102. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  111. Eftekhari, H.; Azimi, S.Z.; Rafiei, R.; Darjani, A.; Alizadeh, N.; Rafiei, E.; Ghadarjani, R.; Gharaei Nejad, K. Dermoscopic features of lichen planopilaris in Northern Iran: A prospective observational study. Int. J. Dermatol. 2019, 58, 1406–1414. [Google Scholar] [CrossRef]
  112. Waśkiel, A.; Rakowska, A.; Sikora, M.; Olszewska, M.; Rudnicka, L. Obraz trichoskopowy liszaja płaskiego mieszkowego. Dermatol. Rev. 2018, 105, 63–75. [Google Scholar] [CrossRef]
  113. Kossard, S. Postmenopausal frontal fibrosing alopecia. Scarring alopecia in a pattern distribution. Arch. Dermatol. 1994, 130, 770–774. [Google Scholar] [CrossRef] [PubMed]
  114. Fanti, P.A.; Baraldi, C.; Misciali, C.; Piraccini, B.M. Cicatricial alopecia. G Ital. Dermatol. Venereol 2018, 153, 230–242. [Google Scholar] [CrossRef]
  115. Ferrari, B.; Vincenzi, C.; Tosti, A. Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia. Ski. Appendage Disord. 2019, 5, 393–395. [Google Scholar] [CrossRef]
  116. Inui, S.; Nakajima, T.; Shono, F.; Itami, S. Dermoscopic findings in frontal fibrosing alopecia: Report of four cases. Int. J. Dermatol. 2008, 47, 796–799. [Google Scholar] [CrossRef]
  117. Rudnicka, L.; Olszewska, M.; Rakowska, A.; Slowinska, M. Trichoscopy update 2011. J. Dermatol. Case Rep. 2011, 5, 82–88. [Google Scholar] [CrossRef]
  118. Qi, S.; Zhao, Y.; Zhang, X.; Li, S.; Cao, H.; Zhang, X. Clinical features of primary cicatricial alopecia in Chinese patients. Indian J. Dermatol. Venereol. Leprol. 2014, 80, 306–312. [Google Scholar] [CrossRef]
  119. Mathur, M.; Acharya, P. Trichoscopy of primary cicatricial alopecias: An updated review. J. Eur. Acad. Dermatol. Venereol. 2020, 34, 473–484. [Google Scholar] [CrossRef]
  120. Saceda-Corralo, D.; Moreno-Arrones, O.M.; Rodrigues-Barata, R.; Rubio-Lombrana, M.; Mir-Bonafe, J.F.; Morales-Raya, C.; Miguel-Gomez, L.; Hermosa-Gelbard, A.; Jaen-Olasolo, P.; Vano-Galvan, S. Trichoscopy activity scale for folliculitis decalvans. J. Eur. Acad. Dermatol. Venereol. 2020, 34, e55–e57. [Google Scholar] [CrossRef]
  121. Segurado-Miravalles, G.; Camacho-Martinez, F.M.; Arias-Santiago, S.; Serrano-Falcon, C.; Serrano-Ortega, S.; Rodrigues-Barata, R.; Jaen Olasolo, P.; Vano-Galvan, S. Epidemiology, clinical presentation and therapeutic approach in a multicentre series of dissecting cellulitis of the scalp. J. Eur. Acad. Dermatol. Venereol. 2017, 31, e199–e200. [Google Scholar] [CrossRef]
  122. Abedini, R.; Kamyab Hesari, K.; Daneshpazhooh, M.; Ansari, M.S.; Tohidinik, H.R.; Ansari, M. Validity of trichoscopy in the diagnosis of primary cicatricial alopecias. Int. J. Dermatol. 2016, 55, 1106–1114. [Google Scholar] [CrossRef]
  123. Ogunleye, T.A.; McMichael, A.; Olsen, E.A. Central centrifugal cicatricial alopecia: What has been achieved, current clues for future research. Dermatol. Clin. 2014, 32, 173–181. [Google Scholar] [CrossRef]
  124. Herskovitz, I.; Miteva, M. Central centrifugal cicatricial alopecia:Challenges and solutions. Clin. Cosmet. Investig. Dermatol. 2016, 9, 175–181. [Google Scholar] [CrossRef] [Green Version]
  125. Munoz Moreno-Arrones, O.; Vano-Galvan, S. Bitemporal hair loss related to traction alopecia. Dermatol. Online J. 2016, 22, 16. [Google Scholar] [CrossRef]
  126. Simakou, T.; Butcher, J.P.; Reid, S.; Henriquez, F.L. Alopecia areata: A multifactorial autoimmune condition. J. Autoimmun. 2019, 98, 74–85. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  127. Amberg, N.; Sotiropoulou, P.A.; Heller, G.; Lichtenberger, B.M.; Holcmann, M.; Camurdanoglu, B.; Baykuscheva-Gentscheva, T.; Blanpain, C.; Sibilia, M. EGFR Controls Hair Shaft Differentiation in a p53-Independent Manner. iScience 2019, 15, 243–256. [Google Scholar] [CrossRef] [Green Version]
  128. Duverger, O.; Morasso, M.I. Role of homeobox genes in the patterning, specification, and differentiation of ectodermal appendages in mammals. J. Cell. Physiol. 2008, 216, 337–346. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  129. Alting, K.; van Hunsel, F. Curling of Hair in Two Female Patients Taking Alitretinoin. Drug Saf. Case Rep. 2018, 5, 26. [Google Scholar] [CrossRef] [Green Version]
  130. Yasemin, G. Curly Hair Induced by Valproate in Bipolar Disorder. Clin. Psychopharmacol. Neurosci. 2016, 14, 114. [Google Scholar] [CrossRef] [Green Version]
  131. Rakowska, A.; Górska, R.; Rudnicka, L.; Zadurska, M. Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia. J. Pediatric 2015, 167, 193–195. [Google Scholar] [CrossRef]
  132. Waśkiel, A.; Rakowska, A.; Sikora, M.; Olszewska, M.; Rudnicka, L. Trichoscopy of alopecia areata: An update. J. Dermatol. 2018, 45, 692–700. [Google Scholar] [CrossRef]
  133. Gelles, L.N. Picture of the month. Pili torti. Arch. Pediatric Adolesc. Med. 1999, 153, 647–648. [Google Scholar] [CrossRef] [Green Version]
Jcm 10 03901 g001 550
Figure 1. Pili torti, characterized by the presence of the hair shaft flattened and twisted 180° along its long axis. Reproduced with permission from J. Taczała, MSc.
Figure 1. Pili torti, characterized by the presence of the hair shaft flattened and twisted 180° along its long axis. Reproduced with permission from J. Taczała, MSc.
Jcm 10 03901 g001
Jcm 10 03901 g002 550
Figure 2. Trichoscopy shows pili torti (blue arrows) in various local and systemic conditions. (a) Pili torti in patient with late onset (Beare) type with single twists of hair (×70); (b) pili torti in patient with ectodermal dysplasia with the presence of multiple twist of hair (×50); (c) pili torti in patient with lichen planopilaris. Perifollicular scaling and milky-red areas are also presented (×20); (d) numerous pili tori in patient with mycosis fungoides (×20).
Figure 2. Trichoscopy shows pili torti (blue arrows) in various local and systemic conditions. (a) Pili torti in patient with late onset (Beare) type with single twists of hair (×70); (b) pili torti in patient with ectodermal dysplasia with the presence of multiple twist of hair (×50); (c) pili torti in patient with lichen planopilaris. Perifollicular scaling and milky-red areas are also presented (×20); (d) numerous pili tori in patient with mycosis fungoides (×20).
Jcm 10 03901 g002
Table
Table 1. Pili torti in genetic diseases and syndromes.
Table 1. Pili torti in genetic diseases and syndromes.
Disease/SyndromeGenetic Defect, InheritanceOther Clinical FindingsOther Hair Shaft Abnormalities
Abnormal hair, joint laxity, and developmental delay [14,15]HEPHL1 gene (AR)growth and developmental delay, joint laxity, neurologic abnormalitiestrichorrhexis nodosa
Acrofacial dysostosis,
Palagonia type [16]		NK (AD)short stature, vertebral anomalies, syndactyly, oligodontia, cleft lip-
Arginosuccinic aciduria [17]ASL gene (AR)lethargy, vomiting, seizures, cerebral edema, hepatomegalytrichorrhexis nodosa
Autosomal recessive ichthyosis with hypotrichosis [18]ST14 gene (AR)lamellar ichthyosis, follicular atrophoderma, hypohidrosisdysplastic hair, pili bifurcati
Bazex-Dupre-Christol syndrome [19]ACTRT1 gene (XD)follicular atrophoderma, multiple basal cell carcinomas, milia, hypohidrosistrichorrhexis nodosa
Björnstad syndrome [20,21]BCS1L gene (AR, AD)sensorineural hearing loss-
Citrullinemia [22]ASS1 gene (AR)hyperammonemia, lethargy, poor feeding, vomiting, high intracranial pressure, scaly skin eruptiontrichorrhexis nodosa
Congenital disorder
of glycosylation, type Ia [23]		PMM2 gene (AR)hypotonia, strabismus, cerebellar hypoplasia, seizures, mental and physical retardation, hepatomegaly, liver fibrosis, fat pads, ‘orange peel’ skintrichorrhexis nodosa
Congenital erythropoietic porphyria [24]UROS gene (AR)severe skin photosensitivity (scarring, blistering),
erythrodontia, reddish-colored urine, anemia		-
Congenital hypotrichosis with juvenile macular dystrophy [25]CDH3 gene (AR)retinal degeneration-
Conradi-Hünermann syndrome [26]EBP gene (XD)short stature, asymmetric short limbs, vertebral malformations, hip dysplasia, chondrodysplasia punctata, follicular atrophoderma, abnormal nails, craniofacial anomalies, cataracts-
Crandall syndrome [27]NK (AR)neurosensory deafness, hypogonadism with decreased
levels of luteinizing hormone and growth hormone		-
Giant axonal neuropathy [28]GAN gene (AR)progressive sensorimotor peripheral neuropathy, axonal loss, optic atrophy, ophthalmoplegia, skeletal deformationstrichorrhexis nodosa
Hypotrichosis 6 [29,30]DSG4 gene (AR)hyperkeratotic follicular papules, erythema, scaling,
dry skin		monilethrix-like hair, trichoschisis, trichorrhexis nodosa-like defects, tapered hair
Laron syndrome [31]GHR gene (AR)short stature, obesity, facial dysmorphism, hypogenitalism, elevated serum growth hormone, undetectable or low serum insulin-like growth factor 1-
Marie Unna hypotrichosis [32]U2HR gene (AD)--
McCune-Albright syndrome [33]GNAS1 gene (not inherited)polyostotic fibrous dysplasia, cafe-au-lait skin pigmentation, multiple endocrine dysfunction-
Menkes disease [5]ATP7A gene (XR)growth retardation, vascular, neurological, and skeletal abnormalities, pale skintrichoclasis, trichorrhexis nodosa, trichoptilosis
Mitochondrial diseases [34]all modes of inheritance can be expectedmental retardation, failure to thrive, hypotonia, hypoparathyroidismlongitudinal grooving with cuticle loss
Netherton syndrome [35,36]SPINK5 gene (AR)congenital erythroderma, atopic manifestations, increased IgE leveltrichorrhexis I vaginata, trichorrhexis nodosa, trichoschisis, trichoptilosis
Occipital horn syndrome [37]ATP7A gene (XR)tallness, pectus excavatum, dorsal kyphosis, occipital horn exostoses, joint laxity, loose skin, decreased serum copper and ceruloplasmin-
Olmsted syndrome [38]TRPV3 gene (AD)constriction of digits (‘pseudoainhum’), mutilating palmoplantar keratoderma, onychodystrophy, periorificial keratotic plaquestrichorrhexis nodosa
Peeling skin syndrome [39]CDSN gene (AR)superficial patchy peeling of the entire skin, erythroderma, atopy, nail anomaliestrichorrhexis invaginata-like changes, monili-form hair shaft diameter reductions, irregular hair shaft torsions
Salti-Salem syndrome [40]NK (AD)hypogonadotropic hypogonadism-
Steatocystoma multiplex [41]KRT17 gene (AD)subcutaneous cystspili canaliculi
Tricho-hepato-enteric syndrome [42]TTC37, SKIV2L genes (AR)low birth weight, failure to thrive, facial dysmorphism, diarrhoea, liver diseasetrichorrhexis nodosa, aniso- and poilkilotrichosis
Trichothiodystrophy, photosensitive [43,44]ERCC2, XPD genes (AR)mental and physical retardation, short stature, facial dysmorphism, ichthyosis, photosensitivity, ocular abnormalitiesPili annulati (‘tiger-tail’ hair), trichoschisis, trichorrhexis nodosa
AD, autosomal dominant; AR, autosomal recessive; NK, not known; XD, X-linked dominant; XR, X-linked recessive.
Table
Table 2. Pili torti in ectodermal dysplasias.
Table 2. Pili torti in ectodermal dysplasias.
Disease/SyndromeGenetic Defect, InheritanceOther Clinical FindingsOther Hair Shaft Abnormalities
Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [60]TP63 gene (AD)hypoplastic maxilla, palmoplantar hyperkeratosis, dystrophic nails, cleft lip/palate, dental anomalies, ankyloblepharon, lacrimal duct atresia, auricular abnormalitiespili canaliculi, trichoclasis, trichorrhexis nodosa, pili annulati, pili triangulati
Basan syndrome [61]SMARCAD1 gene (AD)neonatal blisters and milia, adermatoglyphia, traumatic blistering and fissuring, hypohidrosis-
Cleft lip/palate-ectodermal dysplasia syndrome [25]PVRL1 gene (AR)mental retardation, facial dysmorphism (protruding and malformed ears, micrognathia, bilateral cleft lip/palate), syndactyly, palmoplantar keratoderma, hypohidrosis, teeth, and nail anomalies-
Ectodermal dysplasia 4, hair/nail type [62]KRT85, KRT74, HOXC13 genes (AR)congenital nail dystrophy-
Ectodermal dysplasia with corkscrew hairs [26,63]NK (AR)facial dysmorphism, cleft lip/palate, scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutaneous syndactyly, onychodysplasia, teeth abnormalities-
Ectodermal dysplasia with syndactyly [25]PVRL-4 gene (AR)highly arched palate, teeth abnormalities, syndactyly, hypoplastic nails, dry skin with hyperkeratosis-
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [64]EEC3 gene (AD)hearing loss, cleft lip/palate, dysplastic teeth, ectrodactyly, syndactyly, nail dystrophy, hypopigmentated skin, hyperkeratosis, skin atrophy, genitourinary anomaliespseudomoniletrix, pili canaliculi, longitudinal grooving, trichothiodystrophy
Goltz syndrome [65]PORCN gene (XD)cleft palate, syndactyly, polydactyly, skin atrophy, telangiectasia, herniation of fat, papillomas, nail and teeth anomalies, ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia)atrophic hair with reduced diameters, flattened hair shafts, trichorrhexis nodosa, pili trianguli et canaliculi
Hidrotic ectodermal dysplasia [66,67,68]GJB6 gene (AD)short stature, clubbed digits, palmoplantar hyperkeratosis, hyperpigmentation, nail dystrophy, cataract, photophobia, strabismustrichorrhexis nodosa, trichoptilosis, pili bifurcati, variable diameter, damaged cuticles, irregular helical twists, pili canaliculi
Hypohidrotic Ectodermal Dysplasia [12]EDA1/EDAR, EDARADD, WNT10A genes (XR, AR, AD)facial dysmorphism (prominent forehead, thick lips, flattened nasal bridge), teeth abnormalities, hypohidrosistrichorrhexis nodosa, pili bifurcati, variable shaft thickness
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome [25]NK gene (AD)onychogryphosis, acroosteolysis, linear or reticular palmoplantar keratoderma and erythematous, psoriasis-like skin lesions, periodontitis, premature teeth loss, lingua plicata, ventricular tachycardiapili annulati
Oculo-dento-digital syndrome [69,70]GJA1 gene (AD, AR)facial dysmorphism (narrow, pinched nose, hypoplastic alae nasi, prominent columella, narrow nasal bridge), microphthalmia, microdontia, syndactyly, camptodactyly, clinodactyly, brittle nails“tiger tail” aspect, monilethrix, pili annulati
Pachyonychia congenita-2 [71,72,73]KRT17 gene (AD)palmoplantar hyperkeratosis, nail dystrophy, hyperhidrosis, cystic lesions (steatocystoma multiplex, pilosebaceous cysts), folliculitis, natal teeth-
Rapp-Hodgkin syndrome [74,75]TP63 gene (AD)short stature, hypohidrosis, facial dysmorphism (narrow nose, small mouth, cleft lip, hypoplastic maxilla, prominent, malformed auricles), dysplastic nails, teeth abnormalities, chronic epiphorapili canaliculi
Reeds syndrome [76]NK (AD)lobster claw deformity, nasolacrimal obstruction, cleft lip/palate, teeth abnormalities-
Salamon syndrome [77]NK (AR)everted lower lip, teeth abnormalities, protruding ears-
Schöpf-Schulz-Passarge syndrome [78]WNT10A gene (AR)Palmoplantar keratoderma, nail dystrophy, hypodontia, eyelid cysts-
Trichodysplasia-xeroderma [79]NK (AD)dry skintrichorrhexis nodosa
AD, autosomal dominant; AR, autosomal recessive; NK, not known; XD, X-linked dominant; XR, X-linked recessive.
Table
Table 3. Conditions associated with acquired pili torti.
Table 3. Conditions associated with acquired pili torti.
Conditions Associated with Acquired Pili Torti
lichen planopilaris [89];
frontal fibrosing alopecia [89];
alopecia areata [90];
central centrifugal cicatricial alopecia [91];
discoid lupus erythematosus [89,92];
dissecting cellulitis [89];
folliculitis decalvans [89];
pseudopelade of Brocq [89];
traction alopecia [93];
linear scleroderma en coup de sabre [94,95,96];
repetitive trauma [9];
scalp metastasis of breast cancer [97];
cutaneous T-cell lymphoma [98];
acne conglobate [99];
anorexia nervosa [100,101];
graft-vs.-host disease [102];
hair transplantation [9];
malnutrition [103];
systemic sclerosis [24];
cataracts [99].
Table
Table 4. Drugs related to pili torti formation.
Table 4. Drugs related to pili torti formation.
Drugs Associated with Pili Torti
epidermal growth factor receptor inhibitors [104,105];
oral retinoids [106];
sodium valproate [107];
carbamide perhydrate [108].
Table
Table 5. The clinical and trichoscopic characteristic of cicatricial alopecias associated with pili torti.
Table 5. The clinical and trichoscopic characteristic of cicatricial alopecias associated with pili torti.
DiseaseEpidemiologyClinical FeaturesTrichoscopy
Lichen Planopilariswomen 40–60 years of agemultifocal, confluent areas of hair loss with perifollicular hyperkeratosis and erythema at the periphery; the vertex and the parietal area are most
commonly affected		perifollicular scaling, hair casts, perifollicular erythema, white dots, white and milky red areas, loss of follicular openings
Frontal Fibrosing Alopeciapost-menopausal womenrecession of the frontotemporal hairline, eyebrow lossperifollicular erythema, perifollicular scaling, hair casts, white areas, loss of follicular openings
Discoid Lupus Erythematosuswomen 20–40 years of agewell-demarcated annular or oval plaques with follicular plugging, erythema, telangiectasia, scaling, dyspigmentationfollicular red dots, large yellow or yellow-brown dots, “red spiders on yellow dots”, scattered brown discoloration, white and milky red areas, loss of follicular openings
Pseudopelade of Brocqmiddle-aged white womenasymptomatic, asymmetrical, white, or porcelain-white patches involving the vertex or parietal areawhite dots, white and milky-red areas, loss of follicular openings, variations in hair diameter
Folliculitis
Decalvans		young to middle-aged adult men of African descenttender, recurrent papulo-pustular lesions on the vertex and occipital areahair tufts consisting of 5–20 hair surrounded by yellowish tubular scaling, starburst sign, coiled capillary loops, white and milky-red areas, loss of follicular openings
Dissecting
Cellulitis		young men of African descentperifollicular pustules, painful nodules, abscesses with sinus tracts involving the vertex and occipital area3D yellow dots, yellow structureless areas, black dots, pinpoint-like vessels with whitish halo, white areas, loss of follicular openings
Central
Centrifugal
Cicatricial
Alopecia		middle-aged women of African descentscarring hair loss initially involving the vertex or crown of the scalp and slowly progressing peripherallyperipilar gray/white halo, perifollicular scaling, loss of follicular openings
Traction
Alopecia		women and children of African descenthair loss and thinning, pustules, inflammatory papules;
may progress to scarring alopecia		perifollicular erythema, hair thinning, focal decrease in hair density, honeycomb pattern, pinpoint white dots, irregular white patches
Linear Scleroderma en Coup de SabreChildren and women within the first two decades of lifesingle erythematous or violaceous
linear indurated plaque, progressing to hyperpigmented or hypopigmented streak on the forehead		scattered black dots, broken hairs, short thick linear and branching tortuous vessels on the periphery of the lesion, white areas, loss of follicular openings
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Share and Cite

MDPI and ACS Style

Hoffmann, A.; Waśkiel-Burnat, A.; Żółkiewicz, J.; Blicharz, L.; Rakowska, A.; Goldust, M.; Olszewska, M.; Rudnicka, L. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. J. Clin. Med. 2021, 10, 3901. https://doi.org/10.3390/jcm10173901

AMA Style

Hoffmann A, Waśkiel-Burnat A, Żółkiewicz J, Blicharz L, Rakowska A, Goldust M, Olszewska M, Rudnicka L. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. Journal of Clinical Medicine. 2021; 10(17):3901. https://doi.org/10.3390/jcm10173901

Chicago/Turabian Style

Hoffmann, Aleksandra, Anna Waśkiel-Burnat, Jakub Żółkiewicz, Leszek Blicharz, Adriana Rakowska, Mohamad Goldust, Małgorzata Olszewska, and Lidia Rudnicka. 2021. "Pili Torti: A Feature of Numerous Congenital and Acquired Conditions" Journal of Clinical Medicine 10, no. 17: 3901. https://doi.org/10.3390/jcm10173901

APA Style

Hoffmann, A., Waśkiel-Burnat, A., Żółkiewicz, J., Blicharz, L., Rakowska, A., Goldust, M., Olszewska, M., & Rudnicka, L. (2021). Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. Journal of Clinical Medicine, 10(17), 3901. https://doi.org/10.3390/jcm10173901

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop