A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa

A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa

ABSTRACT 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 l...

Full description

Saved in:
Bibliographic Details
Main Authors: Sumayyah I Alrefaie, Sarah B. Aljoudi, Houriah Y. Nukaly, Waseem K. Alhawsawi, Asem Shadid, Sultan AlNasser, Jehad Hariri
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:Clinical Case Reports
Subjects:
Acokeratoelastidosis
cutis laxa syndrome
Genodermatoses
Genodermatosis
marginal papular keratoderma
punctuate Palmplanter keratoderma type 3
Online Access:https://doi.org/10.1002/ccr3.70367
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:ABSTRACT 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.
ISSN:2050-0904

Similar Items