Neurofibromatosis type 1 (NF1) or von recklinghausen disease
DOI:
https://doi.org/10.29176/2590843X.1493Keywords:
Neurofibromatosis, Neurofibroma, Café au lait spots, MutationAbstract
Neurofibromatosis type 1 is an autosomal dominant disorder, with multisystemic involvement. Signs and symptoms are variable according to the phenotypic variety presented. It affects 1 in 5,000 individuals. The diagnosis is confirmed by the cytogenetic study.
The case of a 70-years-old patient is discussed, with a history of nodular lesions of varying size and shape since childhood, with generalized location on the entire body surface.
Author Biographies
Sergio A. Arbeláez Eslait
Médico interno, Hospital Universidad del Norte, Soledad, Atlántico, Colombia. Médico interno, Hospital Civil “Fray Antonio Alcalde”, Guadalajara, Jalisco, México.
Koretta Esmeral Atehortúa
Médico interno, Hospital Universidad del Norte, Soledad, Atlántico, Colombia. Médico interno, Hospital Civil “Fray Antonio Alcalde”, Guadalajara, Jalisco, México.
Sebastián Peluffo Vergara
Médico interno, Hospital Universidad del Norte, Soledad, Atlántico, Colombia. Médico interno, Hospital Civil “Fray Antonio Alcalde”, Guadalajara, Jalisco, México.
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