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ATP 6V0A2 ‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
Author(s) -
Beyens Aude,
MorenoArtero Ester,
Bodemer Christine,
Cox Helen,
Gezdirici Alper,
Yilmaz Gulec Elif,
Kahloul Najoua,
Khau Van Kien Philippe,
Ogur Gonul,
Harroche Annie,
Vasse Marc,
Salhi Aïcha,
Symoens Sofie,
HadjRabia Smail,
Callewaert Bert
Publication year - 2019
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.13723
Subject(s) - cutis laxa , phenotype , pathogenesis , cutis , glycosylation , medicine , biology , pathology , dermatology , genetics , gene
In ATP 6V0A2 ‐related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological manifestations. The phenotype remains incompletely characterized, especially in adult patients. Glycosylation defects and reduced acidification of secretory vesicles contribute to the pathogenesis, but the consequences at the clinical level remain to be determined. Moreover, the morphology of the elastic fibres has not been studied in ATP 6V0A2 ‐related cutis laxa, nor its relation with potential clinical risks. We report on the extreme variability in ATP 6V0A2 ‐related cutis laxa in 10 novel patients, expand the phenotype with emphysema and von Willebrand disease and hypothesize on the pathogenesis that might link both with deficiency of glycosylation and with elastic fibre anomalies. Our data will affect clinical management of patients with ATP 6V0A2 ‐related cutis laxa.