{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:00:21Z","timestamp":1791421221674,"version":"4.3.3"},"reference-count":38,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T00:00:00Z","timestamp":1745884800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PROADI-SUS","award":["25000.083098\/2019-71"],"award-info":[{"award-number":["25000.083098\/2019-71"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Genodermatoses are genetic conditions with clinical symptoms manifesting in the skin and adjoining tissues, individually rare but comprising a large and heterogeneous group of disorders that represents 15% of genetic diseases. This article discusses the results of individuals with genodermatoses from a reference center for rare diseases studied through whole genome sequencing conducted by the Brazilian Rare Genomes Project between 2021 and 2023. Methods: A retrospective case series with data comprising sex, age at first assessment in the hospital, family history, clinical findings, and molecular results. Results: Excluding neurofibromatosis type 1, Ehlers\u2013Danlos syndrome and RASopathies are discussed elsewhere. Diagnoses in this work comprised ectodermal dysplasias (n = 6), ichthyosis (n = 4), albinism (n = 4), tuberous sclerosis complex (n = 4), and incontinentia pigmenti (n = 3), in addition to 11 others with individual rare conditions. The sex ratio was 17:16 (M:F), consanguinity was present in 6\/33 (18%), and the age at the first evaluation ranged from neonatal to 26 years (median 13.65 years). Negative results were 3\/33 (9%), novel variants were 17\/41 (41.4%), and 7\/30 (23%) presented initially with a double molecular diagnosis, three confirming composed phenotypes. Conclusions: Besides reporting 17 novel variants in 14 genes (BLM, CACNA1B, EDA, ELN, ENG, ERC6, EVC2, PNPLA1, PITCH1, PORCN, SIN3A, TP63, TYR, and WNT10B), the study also identified three atypical clinical presentations due to dual diagnoses, and the c.454C&gt;T variant in the SDR9C7 gene, previously reported only in dogs, was, for the first time, confirmed as causative for ichthyosis in humans.<\/jats:p>","DOI":"10.3390\/genes16050522","type":"journal-article","created":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T03:50:43Z","timestamp":1746071443000},"page":"522","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Beatriz","family":"Puzzi","sequence":"additional","affiliation":[{"name":"Disciplina de Dermatologia, Departamento de Cl\u00ednica M\u00e9dica, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia Paula","family":"Marques-de-Faria","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5292-2344","authenticated-orcid":false,"given":"Ruy Pires","family":"de Oliveira Sobrinho","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7311-7793","authenticated-orcid":false,"given":"Carolina Ara\u00fajo","family":"Moreno","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"},{"name":"Servi\u00e7o de Gen\u00e9tica Molecular, Departamento de Medicina Laboratorial, Hospital Israelita Albert Einstein (HIAE), S\u00e3o Paulo 05652-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Rare Genomes Project Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"ref_1","first-page":"34","article-title":"Genodermatoses in Las Tunas Province, Cuba, 1989\u20132019","volume":"23","year":"2021","journal-title":"MEDICC Rev."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Coelho, A.V.C., Mascaro-Cordeiro, B., Lucon, D.R., N\u00f3brega, M.S., Reis, R.S., Alexandre, R.B., Moura, L.M.S., Oliveira, G.S., Guedes, R.L.M., and Caraciolo, M.P. 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