Selected genodermatoses - Status quo and future prospects.

Basal cell carcinoma epidermolysis bullosa genodermatoses hair disorders keratinization disorders

Journal

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
ISSN: 1610-0387
Titre abrégé: J Dtsch Dermatol Ges
Pays: Germany
ID NLM: 101164708

Informations de publication

Date de publication:
04 2023
Historique:
received: 30 12 2022
accepted: 10 02 2023
medline: 19 4 2023
pubmed: 29 3 2023
entrez: 28 3 2023
Statut: ppublish

Résumé

Genodermatoses are monogenetic disorders, which may manifest with symptoms either exclusively on the skin or also involve other organs in the context of an associated syndrome. Over the past 30 years, numerous hereditary hair, tumor, blistering, and keratinization diseases have been characterized both clinically and genetically. This has resulted in the continuous development of disease-specific classifications as well as diagnostic algorithms and examination techniques, and has also led to new pathogenesis-based therapeutic approaches. While the deciphering of the underlying genetic defects of these diseases is already well advanced, there is still much room for the development of new translationally motivated treatment strategies.

Identifiants

pubmed: 36976174
doi: 10.1111/ddg.15054
doi:

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

337-341

Informations de copyright

© 2023 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by John Wiley & Sons Ltd on behalf of Deutsche Dermatologische Gesellschaft.

Références

Frank J. Hereditäre Hauterkrankungen - Klinisch und genetisch heterogen. J Dtsch Dermatol Ges. 2017;15:881-882.
Betz RC. Alopezien und Hypotrichosen im Kindesalter.Klinik und Diagnostik Hautarzt. 2014;65:520-526.
Levy-Nissenbaum E, Betz RC, Frydman M, et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet. 2003;34:151-153.
Shimomura Y, Agalliu D, Vonica A, et al. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010;464:1043-1047.
Pasternack SM, Refke M, Paknia E, et al. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet. 2013;92:81-87.
Betz RC. Alopezien und Hypotrichosen im Kindesalter: Wann muss an genetische Diagnostik gedacht werden? Monatsschr Kinderheilkd. 2021;169:124-132.
Sprecher E, Bergman R, Richard G, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet. 2001;29:134-136.
Romano MT, Tafazzoli A, Mattern M, et al. Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex. Am J Hum Genet. 2018;103:777-785.
Besnard T, Sloboda N, Goldenberg A, et al. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Genet Med. 2019;21:2025-2035.
Cesarato N, Wehner M, Ghughunishvili M, et al. Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. Am J Med Genet Part A. 2021;185:3900-3904.
Cichon S, Anker M, Vogt IR, et al. Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet. 1998;7:1671-1679.
Ahmad W, Faiyaz ul Haque M, Brancolini V, et al. Alopecia universalis associated with a mutation in the human hairless gene. Science. 1998;279:720-724.
Ibrahim A, Basmanav FB, Bohelay G, et al. Atrichia with papular lesions: a differential diagnosis of alopecia universalis not to be missed. J Eur Acad Dermatol Venereol. 2021;35:e801-e803.
Wen Y, Liu Y, Xu Y, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009;41:228-233.
Argenziano G, Sammarco E, Rossi A, et al. Marie Unna hereditary hypotrichosis. Eur J Dermatol. 1999;9:278-280.
Winter H, Rogers MA, Langbein L, et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet. 1997;16:372-374.
van Steensel MA, Steijlen PM, Bladergroen RS, et al. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet. 2005;42:e19.
Zlotogorski A, Marek D, Horev L, et al. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006;126:1292-1296.
Basmanav FB, Cau L, Tafazzoli A, et al. Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Am J Hum Genet. 2016;99:1292-1304.
Basmanav FB, Cesarato N, Kumar S, et al. Assessment of the genetic spectrum of uncombable hair syndrome in a cohort of 107 individuals. JAMA Dermatol. 2022;158:1245-1253.
Starace M, Gurioli C, Carpanese MA, et al. Short anagen syndrome: A case series and algorithm for diagnosis. Ped Dermatol. 2021;38:1157-1161.
Parren LJ, Frank J. Hereditary tumour syndromes featuring basal cell carcinomas. Br J Dermatol. 2011;165:30-34.
Lang BM, Balermpas P, Bauer A, et al. S2k guidelines for cutaneous basal cell carcinoma - Part 1: Epidemiology, genetics and diagnosis. J Dtsch Dermatol Ges. 2019;17:94-103.
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, 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.
Liu Y, Banka S, Huang Y, et al. Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol basal cell carcinoma susceptibility syndrome. Br J Dermatol. 2022;187:948-961.
Nam H, Jeon S, An H, Yoo J, et al. Critical roles of ARHGAP36 as a signal transduction mediator of Shh pathway in lateral motor columnar specification. Elife. 2019;8:e46683.
Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183:614-627.
Kern JS, Schwieger-Briel A, Lowe S, et al. Oleogel-S10 Phase 3 study “EASE” for epidermolysis bullosa: study design and rationale. Trials. 2019;20:350.
Kueckelhaus M, Rothoeft T, De Rosa L, et al. Transgenic epidermal cultures for junctional epidermolysis bullosa -5-year outcomes. N Engl J Med. 2021;385:2264-2270.
Hirsch T, Rothoeft T, Teig N, et al. Regeneration of the entire human epidermis using transgenic stem cells. Nature. 2017;551:327-332.
Gurevich I, Agarwal P, Zhang P, et al. In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial. Nat Med. 2022;28:780-788.
Guide SV, Gonzalez ME, Bagci IS, et al. Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa. N Engl J Med. 2022;387:2211-2219.
Süssmuth K, Traupe H, Metze D, Oji V. Ichthyoses in everyday practice: management of a rare group of diseases. J Dtsch Dermatol Ges. 2020;18:225-243.
Kim M, Mikhaylov D, Rangel SM, et al. Transcriptomic analysis of the major orphan ichthyosis subtypes reveals shared immune and barrier signatures. J Invest Dermatol. 2022;142:2363-2274 e18.
Enjalbert F, Dewan P, Caley MP, et al. 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets. J Clin Invest. 2020;130:4798-4810.
Joosten MDW, Clabbers JMK, Jonca N, et al. New developments in the molecular treatment of ichthyosis: review of the literature. Orphanet J Rare Dis. 2022;17:269.
Lefferdink R, Rangel SM, Chima M, et al. Secukinumab responses vary across the spectrum of congenital ichthyosis in adults. Arch Dermatol Res. 2022. https://doi.org/10.1007/s00403-022-02325-3 [Epub ahead of print].
Malik K, He H, Huynh TN, Tran G, et al. Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature. J Allergy Clin Immunol. 2019;143:604-618.

Auteurs

Jorge Frank (J)

Department of Dermatology, Venereology and Allergology, Göttingen University Medical Center, Göttingen, Germany.

Cristina Has (C)

Department of Dermatology and Venereology, Medical Center University of Freiburg, Freiburg, Germany.

Regina C Betz (RC)

Institute of Human Genetic, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH