title: Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).
abstract: A 31-year-old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings suggest the diagnosis of Lelis syndrome, as described on the basis of seven unrelated cases. A review concerning this condition is also presented.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil.
authors.forename: Carlos Eduardo
authors.initials: CE
authors.lastname: Steiner
authors.forename: Maria Letícia
authors.initials: ML
authors.lastname: Cintra
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000209:etiology / Q000473:pathology*; D000052:Acanthosis Nigricans / Q000150:complications*; D000328:Adult; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability; D007645:Keratoderma, Palmoplantar; D008297:Male; D013577:Syndrome