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 journalArticle

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

Fingerprint

Neurofibromatosis 1
Neurofibroma
Genes
Mutation
Neoplasms
Proteins

All Science Journal Classification (ASJC) codes

  • Surgery
  • Dermatology

Cite this

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.
Alanís, Julio César Salas ; De La Garza Ramos., Rafael ; Cepeda-Valdés, Rodrigo. / Neurofibromatosis type 1 (von Recklinghausen's Disease): Report of 2 cases. In: Dermatologia Cosmetica, Medica y Quirurgica. 2011 ; pp. 268-271.
@article{8db982465c65412894e2847ca5ad21d3,
title = "Neurofibromatosis type 1 (von Recklinghausen's Disease): Report of 2 cases",
abstract = "Neurofibromatosis type 1, previously known as von Recklinghausen's Disease, belongs to the family of genodermatosis, and is characterized by caf{\'e}-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 caf{\'e}-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.",
author = "Alan{\'i}s, {Julio C{\'e}sar Salas} and {De La Garza Ramos.}, Rafael and Rodrigo Cepeda-Vald{\'e}s",
year = "2011",
month = "10",
day = "1",
language = "English",
pages = "268--271",
journal = "Dermatologia Cosmetica, Medica y Quirurgica",
issn = "1665-4390",
publisher = "Medipiel",

}

Alanís, JCS, 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, pp. 268-271.

Neurofibromatosis type 1 (von Recklinghausen's Disease): Report of 2 cases. / Alanís, Julio César Salas; De La Garza Ramos., Rafael; Cepeda-Valdés, Rodrigo.

In: Dermatologia Cosmetica, Medica y Quirurgica, 01.10.2011, p. 268-271.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Neurofibromatosis type 1 (von Recklinghausen's Disease): Report of 2 cases

AU - Alanís, Julio César Salas

AU - De La Garza Ramos., Rafael

AU - Cepeda-Valdés, Rodrigo

PY - 2011/10/1

Y1 - 2011/10/1

N2 - 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.

AB - 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.

M3 - Article

SP - 268

EP - 271

JO - Dermatologia Cosmetica, Medica y Quirurgica

JF - Dermatologia Cosmetica, Medica y Quirurgica

SN - 1665-4390

ER -