We report an infant delivered at31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis. 我们报告一拘束性皮肤病变的31周出生婴儿,其为一罕见的,体隐性遗传皮肤病。
Focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis. 局灶性真皮发育不全综合征是一种罕见的遗传性皮肤病,其特征是进行性皮肤缺失,引起真皮发育不全,出现线状皮损,真皮层可见脂肪组织。
Hereditary angioedema is a rare autosomal dominant genodermatosis caused by C1 inhibitor ( C1 INH) gene mutations. 遗传性血管性水肿是由C1酯酶抑制剂基因突变所致的一种罕见的常染色体显性遗传性疾病。
Background Dyschromatosis symmetrica hereditaria ( DSH), also called reticulate acropigmentation of Dohi, is a rare autosomal dominant pigmentary genodermatosis. 研究背景遗传性对称性色素异常症(Dyschromatosissymmetricahereditaria,DSH),又称Dohi肢端色素沉着,是一种少见的常染色体显性遗传性皮肤病。