ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

• DOI: 10.1111/exd.13723
• Publication Date: 2018-06-28T07:50:13Z
• Authors: Aude Beyens; Ester Moreno‐Artero; Christine Bodemer; Helen Cox; Alper Gezdirici; Elif Yilmaz Gulec; Najoua Kahloul; Philippe Khau Van...; Gonul Ogur; Annie Harroche; Marc Vasse; Aïcha Salhi; Sofie Symoens; Smail Hadj‐Rabia; Bert Callewaert
• Keywords: Cutis laxa; Pathogenesis; Cutis

Abstract In ATP 6V0A2 ‐related cutis laxa, the skin phenotype varies from a wrinkly to prominent laxa and typically associates with skeletal neurological manifestations. The remains incompletely characterized, especially in adult patients. Glycosylation defects reduced acidification of secretory vesicles contribute pathogenesis, but consequences at clinical level remain be determined. Moreover, morphology elastic fibres has not been studied nor its relation potential risks. We report on extreme variability 10 novel patients, expand emphysema von Willebrand disease hypothesize pathogenesis that might link both deficiency glycosylation fibre anomalies. Our data will affect management patients laxa.