title: Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?
abstract: We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. Biopsy of the hyperpigmented' skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously.
authors.affiliation: University of Tennessee, Department of Pediatrics, Memphis 38105, USA.
authors.forename: E K
authors.initials: EK
authors.lastname: Pivnick
authors.forename: R S
authors.initials: RS
authors.lastname: Wilroy
authors.forename: P R
authors.initials: PR
authors.lastname: Martens
authors.forename: T C
authors.initials: TC
authors.lastname: Teather
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008297:Male; D012174:Retinitis Pigmentosa / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome