A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and <scp>ARCL1A</scp> Cutis Laxa
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.
Authors
- Houriah Nukaly (ORCID: https://orcid.org/0000-0002-3180-8876)
- Jehad Hariri (ORCID: https://orcid.org/0000-0001-8374-6198)
- Asem Shadid (ORCID: https://orcid.org/0000-0002-7422-781X)
- Sultan AlNasser (ORCID: https://orcid.org/0000-0003-4075-7705)
- Sarah B Aljoudi
- Sumayyah Alrefaie
- Waseem K. Alhawsawi
Institutions
- King Abdulaziz University (SA)
- King Fahd Medical City (SA)
- King Saud University (SA)
- King Abdulaziz Medical City (SA)
- King Fahd Armed Forces Hospital (SA)
- Batterjee Medical College
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/ccr3.70367
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00