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Genetics of Complex Cutaneous Disorders
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Genetics of Complex Cutaneous Disorders

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 (10 May 2023) | Viewed by 20348

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. Chao-Kai Hsu

E-Mail Website
Guest Editor
Department of Dermatology, National Cheng Kung University, Tainan, Taiwan
Interests: skin pathology; crab foot swelling; vesicular disease

Special Issue Information

Dear Colleagues,

Cutaneous 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. Chao-Kai Hsu
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.

Published Papers (7 papers)

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Research

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14 pages, 1092 KiB  
Article
Association between IL-17F, IL-17RA Gene Polymorphisms and Response to Biological Drugs in Psoriasis and Beyond
by Alexandra Dana Pușcaș, Iulia Ioana Morar, Ștefan Cristian Vesa, Andreea Cătană, Cristian Pușcaș, Roxana Flavia Ilieș and Remus-Ioan Orasan
Genes 2023, 14(5), 1123; https://doi.org/10.3390/genes14051123 - 22 May 2023
Cited by 1 | Viewed by 1421
Abstract
Psoriasis is a systemic inflammatory disease that associates with multiple comorbidities. It involves complex interactions between environmental factors and polygenic predisposition. The IL-17 family is one of the main actors in the pathogenesis of psoriasis. Secondary nonresponse is common, especially during the long-term [...] Read more.
Psoriasis is a systemic inflammatory disease that associates with multiple comorbidities. It involves complex interactions between environmental factors and polygenic predisposition. The IL-17 family is one of the main actors in the pathogenesis of psoriasis. Secondary nonresponse is common, especially during the long-term use of TNF-α inhibitors, but it is not uncommon even for newer biologics, such as IL-17 inhibitors. Identification of clinically useful biomarkers of treatment efficacy and safety would enable optimal treatment selection, improve patient quality of life and outcome, and reduce healthcare costs. To our knowledge, this is the first study to evaluate the relationship between genetic polymorphism of IL-17F (rs763780) and IL-17RA (rs4819554) and response to biological treatment and other clinical data in bio-naive and secondary non-responders psoriasis patients in Romania and Southeastern Europe. We performed a prospective, longitudinal, analytical cohort study of 81 patients diagnosed with moderate-to-severe chronic plaque psoriasis who received biological treatments for the first time. Of the 79 patients treated with TNF-α inhibitors, 44 experienced secondary nonresponse. All patients were genotyped for the two SNPs in IL-17F and IL-17RA genes. The rs763780 polymorphism in the IL-17F gene could be an attractive candidate biomarker for predicting which patients will respond to anti-TNF-α therapies. Another emergent association of rs4819554 in IL-17RA with the risk of nail psoriasis and a higher BMI in moderate-to-severe plaque psoriasis patients is described. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)
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Review

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20 pages, 375 KiB  
Review
Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
by Chih-Yi Ho, Chiu-Yen Wu, Jeff Yi-Fu Chen and Ching-Ying Wu
Genes 2023, 14(7), 1362; https://doi.org/10.3390/genes14071362 - 28 Jun 2023
Cited by 3 | Viewed by 3238
Abstract
Alopecia areata (AA) is a chronic, non-scarring, immune-mediated skin disease that affects approximately 0.5–2% of the global population. The etiology of AA is complex and involves genetic and environmental factors, with significant advancements in genetic research occurring in recent years. In addition to [...] Read more.
Alopecia areata (AA) is a chronic, non-scarring, immune-mediated skin disease that affects approximately 0.5–2% of the global population. The etiology of AA is complex and involves genetic and environmental factors, with significant advancements in genetic research occurring in recent years. In addition to well-known genes such as PTPN22, CTLA4, and IL2, which have been widely supported as being associated with AA, an increasing number of specific gene-related loci have been discovered through advances in genetic research. For instance, gene analysis of microRNAs can reveal the critical role of miRNAs in regulating gene expression, aiding in the understanding of cellular and organismal functional regulatory mechanisms. Furthermore, numerous studies have confirmed the existence of correlations between AA and other immune-related diseases. Examples include hyperthyroidism and rheumatoid arthritis. By understanding the interrelationships between AA and other immune diseases, we can further comprehend potential shared genetic foundations or pathogenic mechanisms among different diseases. Genetic research plays a crucial role in unraveling the pathogenesis of AA, as the identification of genetic variations associated with AA can assist in formulating more effective and targeted treatment strategies. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)
16 pages, 1877 KiB  
Review
Female Pattern Hair Loss: An Overview with Focus on the Genetics
by Chih-Yi Ho, Jeff Yi-Fu Chen, Wen-Li Hsu, Sebastian Yu, Wei-Chiao Chen, Szu-Hao Chiu, Hui-Ru Yang, Sheng-Yao Lin and Ching-Ying Wu
Genes 2023, 14(7), 1326; https://doi.org/10.3390/genes14071326 - 23 Jun 2023
Cited by 2 | Viewed by 7748
Abstract
Pattern hair loss can occur in both men and women, and the underlying molecular mechanisms have been continuously studied in recent years. Male androgenetic alopecia (M-AGA), also termed male pattern hair loss, is the most common type of hair loss in men. M-AGA [...] Read more.
Pattern hair loss can occur in both men and women, and the underlying molecular mechanisms have been continuously studied in recent years. Male androgenetic alopecia (M-AGA), also termed male pattern hair loss, is the most common type of hair loss in men. M-AGA is considered an androgen-dependent trait with a background of genetic predisposition. The interplay between genetic and non-genetic factors leads to the phenotype of follicular miniaturization. Although this similar pattern of phenotypic miniaturization can also be found in female pattern hair loss (FPHL), the corresponding genetic factors in M-AGA do not account for the phenotype in FPHL, indicating that there are different genes contributing to FPHL. Therefore, the role of genetic factors in FPHL is still uncertain. Understanding the genetic mechanism that causes FPHL is crucial for the future development of personalized treatment strategies. This review aims to highlight the differences in the ethnic prevalence and genetic background of FPHL, as well as the current genetic research progress in nutrition, Wnt signaling, and sex hormones related to FPHL. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)
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14 pages, 754 KiB  
Review
Inherited Reticulate Pigmentary Disorders
by Min-Huei Lin, Pei-Chen Chou, I-Chen Lee, Syuan-Fei Yang, Hsin-Su Yu and Sebastian Yu
Genes 2023, 14(6), 1300; https://doi.org/10.3390/genes14061300 - 20 Jun 2023
Cited by 1 | Viewed by 1317
Abstract
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli–Franceschetti–Jadassohn syndrome [...] Read more.
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli–Franceschetti–Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)
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12 pages, 1379 KiB  
Review
Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics
by Syuan-Fei Yang, Min-Huei Lin, Pei-Chen Chou, Sheng-Kai Hu, Sin-Yi Shih, Hsin-Su Yu and Sebastian Yu
Genes 2023, 14(6), 1297; https://doi.org/10.3390/genes14061297 - 20 Jun 2023
Cited by 7 | Viewed by 2199
Abstract
Psoriasis is a chronic inflammatory skin disease characterized by the appearance of clearly demarcated erythematous and scaly plaques. It can be divided into various types, including plaque, nail, guttate, inverse, and pustular psoriasis. Plaque psoriasis is the most commonly occurring type, though there [...] Read more.
Psoriasis is a chronic inflammatory skin disease characterized by the appearance of clearly demarcated erythematous and scaly plaques. It can be divided into various types, including plaque, nail, guttate, inverse, and pustular psoriasis. Plaque psoriasis is the most commonly occurring type, though there is another rare but severe pustular autoinflammatory skin disease called generalized pustular psoriasis (GPP), which manifests with acute episodes of pustulation and systemic symptoms. Though the etiopathogenesis of psoriasis is not yet fully understood, a growing body of literature has demonstrated that both genetic and environmental factors play a role. The discovery of genetic mutations associated with GPP has shed light on our comprehension of the mechanisms of the disease, promoting the development of targeted therapies. This review will summarize genetic determinants as known and provide an update on the current and potential treatments for GPP. The pathogenesis and clinical presentation of the disease are also included for a comprehensive discussion. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)
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14 pages, 344 KiB  
Review
The Genomic Landscape of Melanoma and Its Therapeutic Implications
by Ting-Ting Yang, Sebastian Yu, Chiao-Li Khale Ke and Shih-Tsung Cheng
Genes 2023, 14(5), 1021; https://doi.org/10.3390/genes14051021 - 29 Apr 2023
Cited by 8 | Viewed by 2087
Abstract
Melanoma is one of the most aggressive malignancies of the skin. The genetic composition of melanoma is complex and varies among different subtypes. With the aid of recent technologies such as next generation sequencing and single-cell sequencing, our understanding of the genomic landscape [...] Read more.
Melanoma is one of the most aggressive malignancies of the skin. The genetic composition of melanoma is complex and varies among different subtypes. With the aid of recent technologies such as next generation sequencing and single-cell sequencing, our understanding of the genomic landscape of melanoma and its tumor microenvironment has become increasingly clear. These advances may provide explanation to the heterogenic treatment outcomes of melanoma patients under current therapeutic guidelines and provide further insights to the development of potential new therapeutic targets. Here, we provide a comprehensive review on the genetics related to melanoma tumorigenesis, metastasis, and prognosis. We also review the genetics affecting the melanoma tumor microenvironment and its relation to tumor progression and treatment. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)

Other

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6 pages, 933 KiB  
Opinion
Systemic Retinoids for Generalized Verrucosis Due to Congenital Immunodeficiency: Case Reports and Review of the Literature
by Hideyuki Kosumi, Ken Natsuga, Teruki Yanagi and Hideyuki Ujiie
Genes 2023, 14(3), 769; https://doi.org/10.3390/genes14030769 - 22 Mar 2023
Viewed by 1642
Abstract
Generalized verrucosis (GV) is a group of immunodeficiency disorders accompanied by widespread human papillomavirus infection. We revisit two cases of GV due to congenital interleukin-7 deficiency successfully treated with systemic retinoids. We also present a review of the literature on the use of [...] Read more.
Generalized verrucosis (GV) is a group of immunodeficiency disorders accompanied by widespread human papillomavirus infection. We revisit two cases of GV due to congenital interleukin-7 deficiency successfully treated with systemic retinoids. We also present a review of the literature on the use of systemic retinoids to treat GV. Our review suggests that systemic retinoids are a safe and effective option for managing recalcitrant wart lesions in cases of GV. Full article
(This article belongs to the Special Issue Genetics of Complex Cutaneous Disorders)
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