Autosomal Recessive Cutis Laxa Type 2A ( ARCL2A) Mimicking Ehlers- Danlos Syndrome by Its Dermatological Manifestations: Report of Three Affected Patients
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Autosomal Recessive Cutis Laxa Type 2A ( ARCL2A) Mimicking Ehlers- Danlos Syndrome by Its Dermatological Manifestations: Report of Three Affected Patients |
| Type de publication | Journal Article |
| Year of Publication | 2014 |
| Auteurs | Greally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, Van Maldergem L |
| Journal | AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| Volume | 164 |
| Pagination | 1245-1253 |
| Date Published | MAY |
| Type of Article | Article |
| ISSN | 1552-4825 |
| Mots-clés | ATP6V0A2-related cutis laxa, autosomal recessive cutis laxa, Ehlers-Danlos-like skin lesions, type 2A (ARCL2A) |
| Résumé | 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. (c) 2014 Wiley Periodicals, Inc. |
| DOI | 10.1002/ajmg.a.36411 |