title: Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.
abstract: We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise.
authors.affiliation: Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK. WilsoL@gosh.nhs.uk
authors.forename: Louise C
authors.initials: LC
authors.lastname: Wilson
authors.forename: Ekundayo
authors.initials: E
authors.lastname: Ajayi-Obe
authors.forename: Birgitta
authors.initials: B
authors.lastname: Bernhard
authors.forename: Saskia M
authors.initials: SM
authors.lastname: Maas
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000254:growth & development*; D018859:Hair Follicle / Q000254:growth & development; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics / Q000473:pathology; D007223:Infant; D008297:Male; D008954:Models, Biological; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface