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毛囊性皮肤萎缩症的遗传学

The genetics of follicular atrophoderma.

作者信息

Curth H O

出版信息

Arch Dermatol. 1978 Oct;114(10):1479-83.

PMID:718183
Abstract

Follicular atrophoderma apparently does not occur alone but is associated with other abnormalities. It is present in three groups: (1) If it is associated with chondrodystrophia calcificans congenita, it occurs only in girls and is due either to an X-chromosomal gene causing the changes in the heterozygote (ie, in the female sex) and penatal death in the hemizygous state (ie, in the male sex), or to an autosomal dominant gene with expression almost wholly limited to the female sex; (2) If it is associated with Bazex's syndrome, it occurs in male and female persons in successive generations and is due either to an autosomal dominant gene or to an X-linked dominant gene; and (3) If it occurs in association with keratosis palmoplantaris dissipata, keratosis follicularis, and hyperhidrosis palmoplantaris, it may be due to a recessive gene or a mutation.

摘要

毛囊性皮肤萎缩显然不会单独出现,而是与其他异常情况相关联。它存在于三组情况中:(1)如果与先天性钙化性软骨营养障碍相关,仅在女孩中出现,其原因要么是一个X染色体基因导致杂合子(即女性)发生变化,而半合子状态(即男性)会导致产前死亡,要么是一个几乎完全限于女性表达的常染色体显性基因;(2)如果与巴泽克斯综合征相关,会在连续几代的男性和女性中出现,其原因要么是常染色体显性基因,要么是X连锁显性基因;(3)如果与掌跖弥漫性角化病、毛囊角化病和掌跖多汗症同时出现,则可能是由于隐性基因或突变。

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