Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).
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.
Steiner
Carlos Eduardo
CE
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil.
Cintra
Maria Letícia
ML
Marques-de-Faria
Antonia Paula
AP
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