Salas AJC, de la Garza RR, Cepeda VR

Language: Spanish
References: 16
Page: 268-271
PDF size: 173.01 Kb.

ABSTRACT

Neurofibromatosis type 1, previously known as von Recklinghausen’s Disease, belongs to the family of genodermatosis, and is characterized by café-au-lait macules and neurofibromas. The pathophysiology involves a mutation in the NF1 gene, which codifies for a protein that has a known function as a tumor supressor gene. The treatment for this disease is limited, especially when it is disseminated. Two cases, a mother and daughter, are presented, both with café-au-lait macules and neurofibromas. Key features of the disease are discussed, with emphasis on the known function of NF1 and its role in the development of neurofibromatosis type 1.

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