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A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co-Occurrence of Acrokeratoelastoidosis and
Sumayyah I Alrefaie1,2, Sarah B Aljoudi1,2, Houriah Y Nukaly3
1Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia.
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.
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