title: Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome?
abstract: Structural hair changes may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder. We report a 22-month-old Turkish girl and her 10-month-old brother, whose scalp hair became fragile and sparse at about 6-7 months of age. Glucosuria, without diabetes or kidney disease, was detected 3-4 months later. Clinical examination revealed normal physical and mental development, and an analysis of plucked hairs showed dysplastic and broken hair shafts. Polarizing microscopy and scanning electron microscopic studies revealed torsion, and irregularities and impressions of the hair shaft, as seen in pili torti, trichorrhexis nodosa and pseudomonilethrix. Analysis of the amino-acid composition of the hair demonstrated a significant reduction of sulphonic cysteic acid and an elevated cysteine and lanthionine content in the girl, and elevated lanthionine levels in her brother. Electrophoretic analysis of the girl's hair proteins revealed a normal composition but a high extractability of hair proteins. The triad of hypotrichosis, structural hair-shaft defects and abnormal amino-acid composition, accompanied by glucosuria without diabetes, may represent a new genetic syndrome.
authors: Department of Dermatology, Free University of Berlin, Germany.
authors: U
authors: U
authors: Blume-Peytavi
authors: J
authors: J
authors: Föhles
authors: R
authors: R
authors: Schulz
authors: G
authors: G
authors: Wortmann
authors: H
authors: H
authors: Gollnick
authors: C E
authors: CE
authors: Orfanos
mesh_terms: D000596:Amino Acids / Q000032:analysis; D003545:Cysteine / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006029:Glycosuria / Q000235:genetics*; D006197:Hair / Q000002:abnormalities* / Q000737:chemistry / Q000648:ultrastructure; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007223:Infant; D008297:Male; D008855:Microscopy, Electron, Scanning; D009679:Nuclear Family; D013577:Syndrome
chemical_list: D000596:Amino Acids; D003545:Cysteine