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 Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.
National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; Bahrain Defence Forces Hospital, Department of Paediatric Cardiology, Riffa, Kingdom of Bahrain.
Marie T
MT
Greally
Neale N
NN
Kalis
Wahid
W
Agab
Kasim
K
Ardati
Sanda
S
Giurgea
Uwe
U
Kornak
Lionel
L
Van Maldergem
D001706:Biopsy; D002648:Child; D003483:Cutis Laxa / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D006180:Proton-Translocating ATPases / Q000235:genetics; D012867:Skin / Q000473:pathology*; D055815:Young Adult
C525845:ATP6V0A2 protein, human; D006180:Proton-Translocating ATPases
ATP6V0A2-related cutis laxa; Ehlers-Danlos-like skin lesions; autosomal recessive cutis laxa; type 2A (ARCL2A)