HYPOTRICHOSIS, HAIR STRUCTURE DEFECTS, HYPERCYSTEINE HAIR AND GLUCOSURIA - A NEW GENETIC SYNDROME

Structural hair changes may be the expression of a genetic disorder af fecting hair growth, part of a congenital syndrome with accompanying h air malformations, or a marker for an underlying metabolic disorder. W e report a 22-month-old Turkish girl and her 10-month-old brother, who se scalp hair became fragile and sparse at about 6-7 months of age, Gl ucosuria, without diabetes or kidney disease, was detected 3-4 months later, Clinical examination revealed normal physical and mental develo pment, and an analysis of plucked hairs showed dysplastic and broken h air shafts. Polarizing microscopy and scanning electron microscopic st udies revealed torsion, and irregularities and impressions of the hair shaft, as seen in pili torti, trichorrhexis nodosa and pseudomonileth rix, Analysis of the amino-acid composition of the hair demonstrated a significant reduction of sulphonic cysteic acid and an elevated cyste ine and lanthionine content in the girl, and elevated lanthionine leve ls in her brother. Electrophoretic analysis of the girl's hair protein s revealed a normal composition but a high extractability of hair prot eins. The triad of hypotrichosis, structural hair-shaft defects and ab normal amino-acid composition, accompanied by glucosuria without diabe tes, may represent a new genetic syndrome.