Autosomal Recessive Cutis Laxa Type 2A ( ARCL2A) Mimicking Ehlers- Danlos Syndrome by Its Dermatological Manifestations: Report of Three Affected Patients

作者：Greally Marie T^*; Kalis Neale N; Agab Wahid; Ardati Kasim; Giurgea Sanda; Kornak Uwe; Van Maldergem Lionel

来源：American Journal of Medical Genetics, Part A, 2014, 164(5): 1245-1253.

DOI：10.1002/ajmg.a.36411

• autosomal recessive cutis laxa
• type 2A (ARCL2A)
• ATP6V0A2-related cutis laxa
• Ehlers-Danlos-like skin lesions

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.

• 出版日期2014-5
• 单位河北医科大学