title: Do you know this syndrome?
abstract: Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unknown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduction. There are few reports in the literature with this association. Studies show that the defective gene is on the chromosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.
authors.affiliation: Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil. rehfrainer@yahoo.com.br
authors.forename: Renata Hubner
authors.initials: RH
authors.lastname: Frainer
authors.forename: Luciana Boff de
authors.initials: LB
authors.lastname: Abreu
authors.forename: Giselle Martins
authors.initials: GM
authors.lastname: Pinto
authors.forename: André Vicente Esteves de
authors.initials: AV
authors.lastname: Carvalho
authors.forename: Luana Pizarro
authors.initials: LP
authors.lastname: Meneghello
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000175:diagnosis; D008268:Macular Degeneration / Q000151:congenital* / Q000175:diagnosis; D013577:Syndrome
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