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Genetics of Skin Disorders (2.0 Edition)
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Genetics of Skin Disorders (2.0 Edition)

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 December 2023) | Viewed by 3969

Special Issue Editors

Dr. Sebastian Yu

E-Mail
Guest Editor
Department of Dermatology, Kaohsiung Medical University, Kaohsiung, Taiwan
Interests: skin biology; psoriasis; melanoma
Special Issues, Collections and Topics in MDPI journals
Dr. Chun-Bing Chen

E-Mail Website
Guest Editor
Department of Dermatology, Chang Gung Memorial Hospital, Linkou, Taiwan
Interests: immunodermatology; adverse drug reactions; oncoimmunology; pharmacogenomics

Special Issue Information

Dear Colleagues,

Skin disorders are often complex diseases with a polygenic background, immune mechanisms, and environmental triggers. Genetic studies identifying susceptibility genes associated with diseases contribute to our understanding of the pathogenesis and development of new treatments. Moreover, the identification of susceptibility genes in different subgroups leads to the identification of disease subtypes, which supports the advancement of specific therapeutics in terms of personalized and precision medicine.

To identify predisposing genetic factors of complex cutaneous disorders, the further characterization of genotypes or genetic variations, such as single-nucleotide polymorphisms, is warranted. Furthermore, clarification of the genetic predisposition in the context of immune milieu and environmental factors promotes the understanding of complex diseases. Lastly, epigenetic modifications have been documented to regulate gene expression in inflammatory skin diseases. This Special Issue will cover progress in the aforementioned fields. We invite researchers to contribute original investigations and review articles.

Dr. Sebastian Yu
Dr. Chun-Bing Chen
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • DNA sequencing
  • epigenetics
  • genome-wide association studies
  • inflammation
  • psoriasis
  • single-nucleotide polymorphisms

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Published Papers (2 papers)

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10 pages, 2104 KiB  
Communication
STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review
by Joonhong Park, Yong Gon Cho, Jin Kyu Kim and Hyun Ho Kim
Genes 2023, 14(10), 1925; https://doi.org/10.3390/genes14101925 - 10 Oct 2023
Cited by 1 | Viewed by 1633
Abstract
X-linked recessive ichthyosis (XLI) is clinically characterized by dark brown, widespread dryness with polygonal scales. We describe the identification of STS and PUDP deletions using targeted panel sequencing combined with copy-number variation (CNV) analysis in XLI. A 9-month-old infant was admitted for genetic [...] Read more.
X-linked recessive ichthyosis (XLI) is clinically characterized by dark brown, widespread dryness with polygonal scales. We describe the identification of STS and PUDP deletions using targeted panel sequencing combined with copy-number variation (CNV) analysis in XLI. A 9-month-old infant was admitted for genetic counseling. Since the second day after birth, the infant’s skin tended to be dry and polygonal scales had accumulated over the abdomen and upper extremities. The infant’s maternal uncle and brother (who had also exhibited similar skin symptoms from birth) presented with polygonal scales on their trunks. CNV analysis revealed a hemizygous deletion spanning 719.3 Kb on chromosome Xp22 (chrX:7,108,996–7,828,312), which included a segment of the STS gene and exhibited a Z ratio of −2 in the proband. Multiplex ligation-dependent probe amplification (MLPA) confirmed this interstitial Xp22.31 deletion. Our report underscores the importance of implementing CNV screening techniques, including sequencing data analysis and gene dosage assays such as MLPA, to detect substantial deletions that encompass the STS gene region of Xq22 in individuals suspected of having XLI. Full article
(This article belongs to the Special Issue Genetics of Skin Disorders (2.0 Edition))
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9 pages, 2253 KiB  
Case Report
When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis
by Emilian-Gheorghe Olteanu, Mihaela Bataneant, Maria Puiu and Adela Chirita-Emandi
Genes 2023, 14(11), 2021; https://doi.org/10.3390/genes14112021 - 29 Oct 2023
Cited by 2 | Viewed by 1777
Abstract
Neonatal diffuse cutaneous mastocytosis (NDCM) is defined as the infiltration of the epidermis by a clonal proliferation of mast cells, observed at birth, without initial signs of systemic involvement. The typical driver mutation is in the KIT gene. We report a rare case [...] Read more.
Neonatal diffuse cutaneous mastocytosis (NDCM) is defined as the infiltration of the epidermis by a clonal proliferation of mast cells, observed at birth, without initial signs of systemic involvement. The typical driver mutation is in the KIT gene. We report a rare case of a boy, born at term, already presenting at birth with generalized subcutaneous nodules on the face, scalp, trunk, back, hands, and feet. The spleen, liver, and inflammatory markers were normal at birth. Tryptase was significantly elevated. A bone marrow biopsy showed no mast cell involvement at age 2 months. A punch biopsy at age 2 months revealed CD117-positive cells diffusely infiltrating the skin, with subsequent DNA NGS sequencing for the formalin-fixed paraffin embedded tissue (FFPE) identifying the pathogenic NM_000222.3:c.1504_1509dup; p.(Ala502_Tyr503dup) variant in the KIT gene previously associated with cutaneous mastocytosis. At 2 years follow-up, he had splenomegaly and multiple cervical and inguinal adenopathy, while the skin nodules persisted, especially on the scalp with accompanying pruritus. He received oral and local sodium cromoglycate, oral antihistamines, antibiotic cream for skin infection, and iron supplementation; however, compliance to treatment was relatively low. The prognosis is difficult to predict, as he developed systemic involvement, failure to thrive, and mild psychomotor delay. A case aggregation of NDCM reported in the literature was performed to provide a comprehensive overview of this rare pathology, to better understand the prognosis. NDCM is a life-threatening disease with severe complications. Almost half had severe complications, such as mast hepatosplenomegaly, adenopathy, bacterial infections, mast cell leukaemia, and systemic involvement. Full article
(This article belongs to the Special Issue Genetics of Skin Disorders (2.0 Edition))
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