毛囊角化性棘皮瘤脱发性与氨基酸尿症（作者译）
[Keratosis follicularis spinulosa decalvans and amino-aciduria (author's transl)].
作者信息
Grosshans E, Heid E, Stoll C
出版信息
Ann Dermatol Venereol. 1978 Apr;105(4):433-8.
PMID:686619
Abstract
A new case of keratosis follicularis spinulosa decalvans (Siemens, 1925) in a 12 1/2 year old boy is related. This X-dominant inherited disturbance of follicular keratinization is associated with an amino-aciduria in the propositus and his mother, especially an increase of aspartic acid in urin and blood. The scarring infundibular plugs are constituted by nucleated keratin, which brightened up in polarized light and seems to be of internal trichilemmal origin.
摘要
报告了一名12岁半男孩患毛囊角化性棘状秃发性鱼鳞病（西门子型，1925年）的新病例。这种X连锁显性遗传的毛囊角化障碍在先证者及其母亲中伴有氨基酸尿症，尤其是尿液和血液中天冬氨酸增加。瘢痕性漏斗状角质栓由有核角质构成，在偏振光下变亮，似乎起源于内毛根鞘。
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