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PMID: 42099307 已发表 · epublish 英语

Autosomal Dominant Cutis Laxa in an Adolescent Male: A Rare Clinical Entity.

Cureus ·第 18 卷 ·第 4 期 ·2026-04-00

Hassan M, Khan S, Saeed Z, Golani S, Talat H

摘要

Cutis laxa is a rare connective tissue disorder characterized by defective elastic fiber formation, leading to loose, inelastic skin and a prematurely aged appearance. Autosomal dominant cutis laxa (ADCL) is an uncommon inherited form that generally presents later in life with relatively mild systemic involvement and is most commonly associated with mutations in the ELN  gene. We report a 17-year-old boy with a five-year history of progressive generalized skin laxity that began at 12 years of age. The laxity initially involved the face and gradually extended to the neck and trunk. His medical history was notable for two prior inguinal hernia repairs. There was no family history of similar complaints, and joint hyperextensibility was absent. Histopathological examination revealed reduced and fragmented dermal elastic fibers, confirmed by Elastic Van Gieson staining. Cardiovascular, pulmonary, and abdominal evaluations were unremarkable. The patient developed major depressive disorder secondary to cosmetic disfigurement. This case highlights the clinical variability of ADCL in adolescence and the importance of multidisciplinary management, psychosocial support, and long-term follow-up.

关键词
autosomal dominant cutis laxa connective tissue disorder elastolysis eln gene psychosocial impact
文献信息
期刊
Cureus
期刊简称
Cureus
ISSN
2168-8184
发表日期
2026-04-00
语言
英语
国家/地区
United States
NLM ID
101596737
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