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.
|Number of pages||4|
|Journal||Dermatologia Cosmetica, Medica y Quirurgica|
|Publication status||Published - 1 Oct 2011|
All Science Journal Classification (ASJC) codes
Alanís, J. C. S., De La Garza Ramos., R., & Cepeda-Valdés, R. (2011). Neurofibromatosis type 1 (von Recklinghausen's Disease): Report of 2 cases. Dermatologia Cosmetica, Medica y Quirurgica, 268-271. https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=80155168605&origin=inward