title: Ectodermal manifestations in Menkes disease.
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.
mesh_terms: D001928:Brain Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006197:Hair / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012306:Risk; D012737:Sex Factors; D012880:Skin Pigmentation; D014960:X Chromosome