Ectodermal manifestations in Menkes disease
- 1 December 1985
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 28 (6) , 532-540
- https://doi.org/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 crrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.Keywords
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