Neurofibromatosis type 1 (von Recklinghausen's Disease): Report of 2 cases

Julio César Salas Alanís, Rafael De La Garza Ramos., Rodrigo Cepeda-Valdés

Research output: Contribution to journalArticlepeer-review

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 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.
Original languageEnglish
Pages (from-to)268-271
Number of pages4
JournalDermatologia Cosmetica, Medica y Quirurgica
Publication statusPublished - 1 Oct 2011
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Surgery
  • Dermatology

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