An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease

Abstract Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists, who are generally the first physicians to suspect its diagnosis. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease i...

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Bibliographic Details
Published in:Actas dermo-sifiliográficas (English ed.) 2016-07, Vol.107 (6), p.454-464
Main Authors: Hernández-Martín, A, Duat-Rodríguez, A
Format: Article
Language:English
Subjects:
Albinism
Cafe-au-lait spots
Cafe-au-Lait Spots - pathology
Dermatology
Efélides
Ephelids
Freckling
Humans
Internal Medicine
Legius syndrome
LEOPARD syndrome
Mancha café con leche
Neurofibroma
Neurofibroma - pathology
Neurofibromatosis 1 - pathology
Neurofibromatosis tipo 1
Neurofibromatosis type 1
Neurofibromin
Neurofibromina
Pecas
Piebaldismo
RASopathies
Rasopatías
Skin Neoplasms - pathology
Síndrome de Legius
Síndrome LEOPARD
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Summary:Abstract Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists, who are generally the first physicians to suspect its diagnosis. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still mainly based on clinical observations and the diagnostic criteria of the National Institute of Health, dating from 1988. Cutaneous manifestations are particularly important because café-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas comprise 3 of the 7 clinical diagnostic criteria. However, café-au-lait spots and freckling can also be present in other diseases. These manifestations are therefore not pathognomonic and are insufficient for definitive diagnosis in the early years of life. NF1 is a multisystemic disease associated with a predisposition to cancer. A multidisciplinary follow-up is necessary and dermatologists play an important role.
ISSN:1578-2190
2173-5778
1578-2190
DOI:10.1016/j.adengl.2016.05.015