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Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients
Author(s) -
Greally Marie T.,
Kalis Neale N.,
Agab Wahid,
Ardati Kasim,
Giurgea Sanda,
Kornak Uwe,
Van Maldergem Lionel
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36411
Subject(s) - cutis laxa , dermatology , ehlers–danlos syndrome , medicine , cutis , pathology
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. © 2014 Wiley Periodicals, Inc.