Exuberant manifestation of neurofibromatosis type 1 affeting 3 generation : delayed diagnosis and the importance of the mtulidisciplinary approach
Elen de Souza Tolentino, Gustavo Nascimento de Souza Pinto, Larissa Maciel, Cleverson Teixeira Soares, Vanessa Soares Lara, Ana Regina Casaroto Moreschi
ARTIGO
Inglês
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, cafe au lait spots, and iris (Lisch) nodules. Early detection and a...
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Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, cafe au lait spots, and iris (Lisch) nodules. Early detection and a multidisciplinary approach are essential for the prevention of complications, including problems of function, aesthetics, and self-esteem, as well as the occurrence of malignant transformation. This study reports a case of an exuberant NF1 manifestation diagnosed by a dental surgeon, whose investigation of a family led to the diagnosis of NF1, with different expressivities, in 3 generations
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Fechado
Exuberant manifestation of neurofibromatosis type 1 affeting 3 generation : delayed diagnosis and the importance of the mtulidisciplinary approach
Elen de Souza Tolentino, Gustavo Nascimento de Souza Pinto, Larissa Maciel, Cleverson Teixeira Soares, Vanessa Soares Lara, Ana Regina Casaroto Moreschi
Exuberant manifestation of neurofibromatosis type 1 affeting 3 generation : delayed diagnosis and the importance of the mtulidisciplinary approach
Elen de Souza Tolentino, Gustavo Nascimento de Souza Pinto, Larissa Maciel, Cleverson Teixeira Soares, Vanessa Soares Lara, Ana Regina Casaroto Moreschi
Fontes
Oral surgery oral medicine oral pathology oral radiology and endodontology (Fonte avulsa) |