[Familial clinical manifestation in patients with neuromesoectodermic defect]
Maria Lúcia Leal dos Santos1, Sandra Lopes Mattos e Dinato, Juliana Messias Moraes
1Departamento de Clínica Médica, Centro Universitário Lusíada, Ruya Bento de Abreu 65, 11045-140 Santos SP, Brazil.
Abstract:
We relate the association of two distinct cases of neuromesoectodermosis occurred in a family, one manifested as neurofibromatosis type 1 and the other as tuberous sclerosis. The two anomalies at cousins, caused by different genetic mutations and transmitted by autosomal dominant inheritance, suggest a possible relation between them. Also, clinical manifestations are described, their consequences and the diagnostic criteria of both illnesses, emphasizing the importance of the precocious diagnosis.
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