Alrefaie Sumayyah I, Aljoudi Sarah B, Nukaly Houriah Y, Alhawsawi Waseem K, Shadid Asem, AlNasser Sultan, Hariri Jehad
Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia.
Department of Dermatology, Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia.
Clin Case Rep. 2025 Apr 1;13(4):e70367. doi: 10.1002/ccr3.70367. eCollection 2025 Apr.
AKE and cutis laxa type ARCL1A are both disorders of elastic fibers characterized histologically by elastin degeneration and/or fragmentation. However, the pathogenesis is thought to be distinct. AKE is an autosomal dominant disorder with an unknown gene mutation. On the other hand, cutis laxa type ARCL1A represents a fibulin five gene mutation. Herein, we present a lady with AKE, and the family history revealed a son with genetically confirmed cutis laxa type ARCL1A. This report might give insight towards the possibility of fibulin gene alterations in the pathogenesis of AKE.
获得性皮肤松弛症（AKE）和ARCL1A型皮肤松弛症均为弹性纤维疾病，组织学特征为弹性蛋白变性和/或断裂。然而，其发病机制被认为是不同的。AKE是一种常染色体显性疾病，基因突变未知。另一方面，ARCL1A型皮肤松弛症表现为纤维连接蛋白5基因突变。在此，我们报告一名患有AKE的女性，家族史显示其儿子经基因检测确诊为ARCL1A型皮肤松弛症。本报告可能为AKE发病机制中纤维连接蛋白基因改变的可能性提供见解。
