Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA.
Division of Genetics, Department of Pediatrics, Dell Medical School, Austin, Texas, USA.
Pediatr Dermatol. 2023 Mar;40(2):352-354. doi: 10.1111/pde.15169. Epub 2022 Nov 5.
Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic metabolites in various organs. Multiple subtypes of this disease have been described; however, the perinatal-lethal form is extremely rare and challenging to diagnose. We present a case of a newborn girl with ichthyosis, petechiae, and arthrogryposis, later found to be homozygous for a pathogenic variant of the glucocerebrosidase gene. This case highlights the potential role of dermatologists in the recognition of this rare disease.
戈谢病是一种罕见的溶酶体贮积症，由葡萄糖脑苷脂酶缺乏引起。这种酶的缺乏导致各种器官中有毒代谢物的积累。这种疾病有多种亚型；然而，围产期致死形式极为罕见，诊断具有挑战性。我们报告了一例新生儿女孩，患有鱼鳞病、瘀点和关节挛缩，后来被发现为葡萄糖脑苷脂酶基因的纯合致病性变异。该病例强调了皮肤科医生在识别这种罕见疾病方面的潜在作用。
