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Biomedicines
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Somatic Mosaicism in Skin Disorders
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Somatic Mosaicism in Skin Disorders

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 23267

Special Issue Editor

Dr. Dimitra Kiritsi

E-Mail Website
Guest Editor
Department of Dermatology, Medical Center‐University of Freiburg, Faculty of Medicine, Freiburg, Germany
Interests: skin fragility disorders; epidermolysis bullosa; autoimmune blistering diseases; wound healing disorders; genodermatoses

Special Issue Information

Dear Colleagues,

Mosaicism refers to the presence of a population of cells arising from the same zygote, but differing in their genetic background, within the same organism. Already at the end of the 20th century, skin disorders were described arising in segments of the skin, the lines of Blaschko. The skin, as the largest and most accessible organ, offers a unique way to visualize disorders arising through mosaicism; however, mosaicism is common in every tissue with high regenerative pressure. The advances in molecular genetics disclosed the underlying genetic mechanisms, showing that postzygotic mosaicism is causal for all nevi and can occur in several types of inherited but also common skin diseases. In addition, mosaicism can serve as a rescue mechanism, resulting in areas of healthy skin in patients with genodermatoses, a concept called revertant mosaicism. Efforts are focusing on using this phenomenon in patients with epidermolysis bullosa as a source of “natural gene therapy”. In this Special Issue, we welcome the submission of original research articles and reviews that reflect recent advances in research into the clinical presentation and mechanisms of somatic mosaicism in skin disorders, as well as how research in this area has advanced diagnostics in cutaneous abnormalities.

Dr. Dimitra Kiritsi
Guest Editor

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Keywords

  • segmental mosaicism
  • superimposed skin lesions
  • lines of Blaschko
  • postzygotic mutations
  • mosaic activating mutations
  • type 2 mosaicism
  • naevus
  • revertant mosaicism

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Published Papers (5 papers)

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Research

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19 pages, 3081 KiB  
Article
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study
by Andrea Diociaiuti, Roberta Rotunno, Elisa Pisaneschi, Claudia Cesario, Claudia Carnevale, Angelo Giuseppe Condorelli, Massimo Rollo, Stefano Di Cecca, Concetta Quintarelli, Antonio Novelli, Giovanna Zambruno and May El Hachem
Biomedicines 2022, 10(6), 1460; https://doi.org/10.3390/biomedicines10061460 - 20 Jun 2022
Cited by 11 | Viewed by 5309
Abstract
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had [...] Read more.
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent GNAQ somatic mutation p.Arg183Gln, while two had PIK3CA mutations. Unexpectedly, 8 of 11 cases of diffuse CM with overgrowth (DCMO) carried known PIK3CA mutations, and the remaining 3 had pathogenic GNA11 variants. Recurrent PIK3CA mutations were identified in the patients with megalencephaly–CM–polymicrogyria (MCAP), CLOVES, and Klippel–Trenaunay syndrome. Interestingly, PIK3CA somatic mutations were associated with hand/foot anomalies not only in MCAP and CLOVES, but also in CMO and DCMO. Two patients with blue rubber bleb nevus syndrome carried double somatic TEK mutations, two of which were previously undescribed. In addition, a novel sporadic case of Parkes Weber syndrome (PWS) due to an RASA1 mosaic pathogenic variant was described. Finally, a girl with a mild PWS and another diagnosed with CMO carried pathogenic KRAS somatic variants, showing the variability of phenotypic features associated with KRAS mutations. Overall, our findings expand the clinical and molecular spectrum of sporadic VMs, and show the relevance of genetic testing for accurate diagnosis and emerging targeted therapies. Full article
(This article belongs to the Special Issue Somatic Mosaicism in Skin Disorders)
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9 pages, 1326 KiB  
Article
ACTB Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus
by Shangzhi Dai, Huijun Wang and Zhimiao Lin
Biomedicines 2021, 9(12), 1879; https://doi.org/10.3390/biomedicines9121879 - 10 Dec 2021
Cited by 2 | Viewed by 2640
Abstract
Becker’s nevus (BN) is a cutaneous hamartoma which is characterized by circumscribed hyperpigmentation with hypertrichosis. Recent studies have revealed that BN patients harbored postzygotic ACTB mutations, which were restricted to arrector pili muscle lineage. We screened for ACTB mutations in 20 Chinese patients [...] Read more.
Becker’s nevus (BN) is a cutaneous hamartoma which is characterized by circumscribed hyperpigmentation with hypertrichosis. Recent studies have revealed that BN patients harbored postzygotic ACTB mutations, which were restricted to arrector pili muscle lineage. We screened for ACTB mutations in 20 Chinese patients with BN and found that recurrent mutations (c.C439A or c.C439T) in ACTB were detected in the majority of BN patients. However, more than 20% of the patients were negative for ACTB mutations, suggesting a possible genetic heterogeneity in Becker’s nevus. Interestingly, these mutations were also detected in dermal tissues outside the arrector pili muscle. We further performed genotype–phenotype correlation analysis, which revealed that lesions above the waistline, including the trunk above the anterior superior spine level, upper limbs and face, or covering more than 1% BSA were more likely to be positive for ACTB mutations. Altogether, our results provide further evidence of postzygotic ACTB mutations in BN patients and suggest a possible genotype–phenotype correlation of BN. Full article
(This article belongs to the Special Issue Somatic Mosaicism in Skin Disorders)
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Review

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21 pages, 1967 KiB  
Review
Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes
by Peter C. van den Akker, Maria C. Bolling and Anna M. G. Pasmooij
Biomedicines 2022, 10(9), 2118; https://doi.org/10.3390/biomedicines10092118 - 29 Aug 2022
Cited by 6 | Viewed by 3629
Abstract
Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease phenotype back to normal. RM was molecularly confirmed [...] Read more.
Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease phenotype back to normal. RM was molecularly confirmed for the first time in a genodermatosis in 1997, the genetic skin condition junctional epidermolysis bullosa (EB). At that time, RM was considered an extraordinary phenomenon. However, several important discoveries have changed this conception in the past few decades. First, RM has now been identified in all major subtypes of EB. Second, RM has also been identified in many other genodermatoses. Third, a theoretical mathematical exercise concluded that reverse mutations should be expected in all patients with a recessive subtype of EB or any other genodermatosis. This has shifted the paradigm from RM being an extraordinary phenomenon to it being something that every physician working in the field of genodermatoses should be looking for in every patient. It has also raised hope for new treatment options in patients with genodermatoses. In this review, we summarize the current knowledge on RM and discuss the perspectives of RM for the future treatment of patients with genodermatoses. Full article
(This article belongs to the Special Issue Somatic Mosaicism in Skin Disorders)
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12 pages, 997 KiB  
Review
Revertant Mosaicism in Epidermolysis Bullosa
by Cameron Meyer-Mueller, Mark J. Osborn, Jakub Tolar, Christina Boull and Christen L. Ebens
Biomedicines 2022, 10(1), 114; https://doi.org/10.3390/biomedicines10010114 - 6 Jan 2022
Cited by 6 | Viewed by 4004
Abstract
Epidermolysis bullosa (EB) is a group of genetic blistering diseases characterized by mechanically fragile skin and mucocutaneous involvement. Historically, disease management has focused on supportive care. The development of new genetic, cellular, and recombinant protein therapies has shown promise, and this review summarizes [...] Read more.
Epidermolysis bullosa (EB) is a group of genetic blistering diseases characterized by mechanically fragile skin and mucocutaneous involvement. Historically, disease management has focused on supportive care. The development of new genetic, cellular, and recombinant protein therapies has shown promise, and this review summarizes a unique gene and cell therapy phenomenon termed revertant mosaicism (RM). RM is the spontaneous correction of a disease-causing mutation. It has been reported in most EB subtypes, some with relatively high frequency, and has been observed in both keratinocytes and fibroblasts. RM manifests as identifiable patches of unaffected, blister-resistant skin and can occur through a variety of molecular mechanisms, including true back mutation, intragenic crossover, mitotic gene conversion, and second-site mutation. RM cells represent a powerful autologous platform for therapy, and leveraging RM cells as a therapeutic substrate may avoid the inherent mutational risks of gene therapy/editing. However, further examination of the genomic integrity and long-term functionality of RM-derived cells, as well in vivo testing of systemic therapies with RM cells, is required to realize the full therapeutic promise of naturally occurring RM in EB. Full article
(This article belongs to the Special Issue Somatic Mosaicism in Skin Disorders)
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19 pages, 7702 KiB  
Review
Acne Syndromes and Mosaicism
by Sumer Baroud, Jim Wu and Christos C. Zouboulis
Biomedicines 2021, 9(11), 1735; https://doi.org/10.3390/biomedicines9111735 - 21 Nov 2021
Cited by 6 | Viewed by 6487
Abstract
Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic [...] Read more.
Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the FGFR2 gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism. Full article
(This article belongs to the Special Issue Somatic Mosaicism in Skin Disorders)
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