title: A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.
abstract: We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.
authors.affiliation: Institute of Dermatology, Federico II University of Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Argenziano
authors.forename: M R
authors.initials: MR
authors.lastname: Monsurrò
authors.forename: R
authors.initials: R
authors.lastname: Pazienza
authors.forename: M
authors.initials: M
authors.lastname: Delfino
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D003878:Dermatoglyphics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics