Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) & Department of Dermatology, Department of Paediatric Social Work, INSERM U1163 & Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, APHP, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.
Exp Dermatol. 2019 Oct;28(10):1142-1145. doi: 10.1111/exd.13723. Epub 2018 Aug 20.
In ATP6V0A2-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 ATP6V0A2-related cutis laxa, nor its relation with potential clinical risks. We report on the extreme variability in ATP6V0A2-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 ATP6V0A2-related cutis laxa.
在 ATP6V0A2 相关的弹性皮肤疏松症中，皮肤表型从皮肤起皱到明显的弹性皮肤疏松症不等，通常与骨骼和神经系统表现有关。该表型仍不完全明确，特别是在成年患者中。糖基化缺陷和分泌囊泡酸化减少导致了发病机制，但在临床水平上的后果仍有待确定。此外，ATP6V0A2 相关弹性皮肤疏松症的弹性纤维形态尚未被研究，也未研究其与潜在临床风险的关系。我们报告了 10 例新的 ATP6V0A2 相关弹性皮肤疏松症患者的极端变异性，扩大了肺气肿和血管性血友病的表型，并假设发病机制可能与糖基化缺陷和弹性纤维异常有关。我们的数据将影响 ATP6V0A2 相关弹性皮肤疏松症患者的临床管理。
