Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Journal: American Journal Of Medical Genetics. Part A
Published:
Abstract
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.
Authors
Marie Greally, Neale Kalis, Wahid Agab, Kasim Ardati, Sanda Giurgea, Uwe Kornak, Lionel Van Maldergem
Relevant Conditions