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

Am J Med Genet A. 2014 May;164A(5):1245-53. doi: 10.1002/ajmg.a.36411. Epub 2014 Jan 29.

Abstract

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.

Keywords: ATP6V0A2-related cutis laxa; Ehlers-Danlos-like skin lesions; autosomal recessive cutis laxa; type 2A (ARCL2A).

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child
  • Cutis Laxa / diagnosis*
  • Cutis Laxa / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Ehlers-Danlos Syndrome / diagnosis*
  • Facies
  • Female
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Proton-Translocating ATPases / genetics
  • Skin / pathology*
  • Young Adult

Substances

  • ATP6V0A2 protein, human
  • Proton-Translocating ATPases

Supplementary concepts

  • Cutis Laxa, Autosomal Recessive, Type IIA