Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients. Issue 5 (29th January 2014)

• Record Type: Journal Article
• Authors: Greally, Marie T.; Kalis, Neale N.; Agab, Wahid; Ardati, Kasim; Giurgea, Sanda; Kornak, Uwe; Van Maldergem, Lionel
• Is Part Of: American journal of medical genetics. Volume 164:Issue 5(2014.)
• Page Start: 1245
• Page End: 1253
• Publication Date: 2014-01-29
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36411
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36411-sec-0001" sec-type="section"> <p>Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely <italic>ATP6V0A2</italic>‐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.</p> </sec> </abstract>