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 su- pressor 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.
|Número de páginas
|Dermatologia Cosmetica, Medica y Quirurgica
|Published - 1 oct 2011
|Publicado de forma externa
All Science Journal Classification (ASJC) codes