Elfatoiki Fatima Zahra, Cordoliani Florance, Pascal Regane Pascal, Afforitit-Demoge Aude
Université Paris Diderot, Sorbonne Paris Cité, AP-HP, Service de Dermatologie, Hôpital Saint Louis, Paris, France.
Dermatol Online J. 2016 May 15;22(5):13030/qt0w28m8h4.
Hypotrichosis with juvenile macular dystrophy is a rare congenital disease mainly found in the Druze population of Northern Israel. This disorder is caused by the CDH3 mutation encoding P-cadherin, which is expressed in retinal pigment epithelium and hair follicles. An 11-year-old girl who was born to related Portuguese parents, had hypotrichosis since birth and macular dystrophy diagnosed at age 5. Fundus examination and fluorescein angiography revealed located macular pigmentary abnormalities. No molecular analysis was done. A fundus examination should be considered mandatory in the assessment of congenital hypotrichosis.
毛发稀少伴青少年黄斑营养不良是一种罕见的先天性疾病，主要见于以色列北部的德鲁兹人群体。这种疾病由编码P-钙黏蛋白的CDH3突变引起，P-钙黏蛋白在视网膜色素上皮和毛囊中表达。一名11岁女孩，其父母为有血缘关系的葡萄牙人，自出生就有毛发稀少，并在5岁时被诊断为黄斑营养不良。眼底检查和荧光素血管造影显示黄斑部有色素异常。未进行分子分析。在评估先天性毛发稀少时，应考虑进行眼底检查。
