{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T22:07:46Z","timestamp":1775254066342,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,12,13]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    We report a female in her early childhood with autosomal recessive keratitis-ichthyosis-deafness (KID) syndrome, presenting with congenital erythroderma, sensorineural deafness and developmental delays. Genetic analysis revealed a novel homozygous pathogenic variant in the\n                    <jats:italic>AP1B1<\/jats:italic>\n                    gene. Initiation of acitretin therapy led to significant dermatologic improvement without adverse effects so far. This case underscores the rarity of autosomal recessive KID syndrome and highlights acitretin\u2019s potential as a therapeutic option.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-269396","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T05:05:13Z","timestamp":1766725513000},"page":"e269396","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Novel homozygous pathogenic\n                    <i>AP1B1<\/i>\n                    variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7714-4318","authenticated-orcid":false,"given":"David G","family":"Caetano","sequence":"first","affiliation":[{"name":"Dermatology and Venereology, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Martins","sequence":"additional","affiliation":[{"name":"Dermatology and Venereology, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2642-1773","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Soares","sequence":"additional","affiliation":[{"name":"Dermatology and Venereology, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonor C","family":"Ramos","sequence":"additional","affiliation":[{"name":"Dermatology and Venereology, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,25]]},"reference":[{"key":"2025122521050839000_18.12.e269396.1","doi-asserted-by":"crossref","first-page":"104827","DOI":"10.1016\/j.ejmg.2023.104827","article-title":"Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature","volume":"66","author":"Vasconcelos","year":"2023","journal-title":"Eur J Med Genet"},{"key":"2025122521050839000_18.12.e269396.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2012.12.965"},{"key":"2025122521050839000_18.12.e269396.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07806.x"},{"key":"2025122521050839000_18.12.e269396.4","doi-asserted-by":"crossref","first-page":"104449","DOI":"10.1016\/j.ejmg.2022.104449","article-title":"Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1","volume":"65","author":"Faghihi","year":"2022","journal-title":"Eur J Med Genet"},{"key":"2025122521050839000_18.12.e269396.5","doi-asserted-by":"publisher","DOI":"10.1086\/339986"},{"key":"2025122521050839000_18.12.e269396.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.021"},{"key":"2025122521050839000_18.12.e269396.7","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1111\/bjd.19815","article-title":"Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome","volume":"184","author":"Vornweg","year":"2021","journal-title":"Br J Dermatol"},{"key":"2025122521050839000_18.12.e269396.8","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/dth.12192","article-title":"Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature","volume":"28","author":"Patel","year":"2015","journal-title":"Dermatol Ther"},{"key":"2025122521050839000_18.12.e269396.9","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1111\/j.1346-8138.2002.tb00315.x","article-title":"KID syndrome: response to acitretin","volume":"29","author":"Sahoo","year":"2002","journal-title":"J Dermatol"},{"key":"2025122521050839000_18.12.e269396.10","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0164"},{"key":"2025122521050839000_18.12.e269396.11","doi-asserted-by":"crossref","first-page":"34","DOI":"10.5114\/ada.2020.98558","article-title":"Pros and cons of using systemic acitretin in the paediatric population","volume":"39","author":"Sadowska","year":"2022","journal-title":"Postepy Dermatol Alergol"},{"key":"2025122521050839000_18.12.e269396.12","first-page":"61","article-title":"Oral acitretin treatment in severe congenital ichthyosis of the neonate","volume":"44","author":"Sara\u00e7o\u011flu","year":"2002","journal-title":"Turk J Pediatr"},{"key":"2025122521050839000_18.12.e269396.13","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.jdcr.2017.07.021","article-title":"Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome","volume":"3","author":"Wolfe","year":"2017","journal-title":"JAAD Case Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269396","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T05:05:14Z","timestamp":1766725514000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269396"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":13,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12,25]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bcr-2025-269396"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269396","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}