Article
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
American journal of medical genetics. Part A - 1 May 2014
Greally Marie T, Kalis Neale N, Agab Wahid, Ardati Kasim, Giurgea Sanda, Kornak Uwe, Van Maldergem Lionel
Abstract excerpt
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...
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