门克斯病的外胚层表现。

Ectodermal manifestations in Menkes disease.

作者信息

Moore C M, Howell R R

出版信息

Clin Genet. 1985 Dec;28(6):532-40. doi: 10.1111/j.1399-0004.1985.tb00422.x.

DOI:10.1111/j.1399-0004.1985.tb00422.x

Abstract

Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.

摘要

本文描述了患有门克斯病的男性从出生到12岁以及28名确诊携带者或有患病风险女性的头发和皮肤色素沉着变化情况。在所有受影响的男性以及43%接受研究的女性中均观察到扭曲发。扭曲发的存在可被视为携带者状态的可靠诊断特征。文中还给出了对门克斯病家系中个体头发进行评估的建议。