{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T22:08:12Z","timestamp":1778450892608,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>Atrichia with papular lesions is a rare autosomal recessive genodermatosis characterized by complete, irreversible hair loss that typically begins in infancy and is often misdiagnosed due to phenotypic similarity to other forms of alopecia. A 4-year-old male patient presented with complete hair loss since infancy, with absent eyebrows and eyelashes and no evidence of regrowth. His younger sister exhibited identical features, consistent with a history of consanguinity in the family. Physical examination revealed smooth skin and multiple firm, painless, keratotic papules (2\u20133\u2009mm) on the scalp and cheeks. A 4-mm punch biopsy demonstrated an absence of mature hair follicles, replaced by keratin-filled cysts without significant inflammation. These histopathological findings, together with the clinical presentation, supported a high-likelihood diagnosis of atrichia with papular lesions. Established diagnostic criteria supported this assessment even in the absence of human hairless gene testing, particularly in consanguineous families in resource-limited settings. The family received counseling regarding the irreversible nature of the condition and was offered psychological support. This case highlights the diagnostic challenges encountered in resource-limited settings and proposes a clinical framework that prioritizes heightened clinical awareness and targeted screening in high-risk populations, including consanguineous families with a history of atrichia with papular lesions or other autosomal recessive skin disorders.<\/jats:p>","DOI":"10.1177\/03000605261446471","type":"journal-article","created":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:19:31Z","timestamp":1778285971000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report"],"prefix":"10.1177","volume":"54","author":[{"given":"Nabeha Haytham","family":"Alibrahim","sequence":"first","affiliation":[{"name":"Department of Dermatology, National Hama Hospital, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0424-2037","authenticated-orcid":false,"given":"Ayham","family":"Qatza","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hama University, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Dukhan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hama University, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Almoustafa","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hama University, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thaer","family":"Douri","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hama University, Hama, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,5,8]]},"reference":[{"key":"e_1_3_11_2_2","doi-asserted-by":"publisher","DOI":"10.4103\/0974-7753.90827"},{"key":"e_1_3_11_3_2","doi-asserted-by":"publisher","DOI":"10.5070\/D3264048348"},{"key":"e_1_3_11_4_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0466"},{"key":"e_1_3_11_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000346753"},{"key":"e_1_3_11_6_2","first-page":"35","article-title":"Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia","volume":"27","author":"Arif T","year":"2018","unstructured":"Arif T, Adil M, Amin SS. 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