Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients

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...

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Veröffentlicht in:American journal of medical genetics. Part A 2014-05, Vol.164A (5), p.1245-1253
Hauptverfasser: Greally, Marie T., Kalis, Neale N., Agab, Wahid, Ardati, Kasim, Giurgea, Sanda, Kornak, Uwe, Van Maldergem, Lionel
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Sprache:eng
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Zusammenfassung: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36411