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显性性连锁遗传性点状软骨发育不良:一种独特类型的点状软骨发育不良。

Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.

作者信息

Manzke H, Christophers E, Wiedemann H R

出版信息

Clin Genet. 1980 Feb;17(2):97-107. doi: 10.1111/j.1399-0004.1980.tb00115.x.

Abstract

This paper suggests that there is probably a dominant, sex-linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with chondrodysplasia punctata reported in the literature belong to the dominant sex-linked type.

摘要

本文表明可能存在一种显性、性连锁型点状软骨发育不良。报告了三名患有这种疾病的女孩的临床资料。她们的两位母亲表现出轻度瘢痕性脱发。患儿特征性的皮肤表现包括出生后最初几个月出现的皮肤红斑改变和条纹状鱼鳞病样角化过度。之后,图案状鱼鳞病、毛囊性皮肤萎缩、毛发粗糙无光泽和瘢痕性脱发变得明显。据推测,文献中报道的所有点状软骨发育不良病例中约四分之一属于显性性连锁型。

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