An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer

Abstract In addition to the classic skin manifestations of NF1 (café-au-lait spots, freckling, and neurofibromas), the presence of other manifestations such as nevus anemicus and juvenile xanthogranuloma may be of high predictive value in patients with an uncertain diagnosis. Localized or mosaic NF1...

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Bibliographic Details
Published in:Actas dermo-sifiliográficas (English ed.) 2016-07, Vol.107 (6), p.465-473
Main Authors: Hernández-Martín, A, Duat-Rodríguez, A
Format: Article
Language:English
Subjects:
Cafe-au-Lait Spots - pathology
Consejo genético
Dermatology
Genetic counseling
Glioma
Glomus tumor
Humans
Internal Medicine
Juvenile xanthogranuloma
Malignant peripheral nerve sheath tumor
Melanoma
Melanosis - pathology
Neurofibromatosis 1 - pathology
Neurofibromatosis tipo 1
Neurofibromatosis type 1
Nevus anemicus
Skin Neoplasms - pathology
Tumor glómico
Tumor maligno de vaina nerviosa de nervio periférico
Xantogranuloma juvenil
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Summary:Abstract In addition to the classic skin manifestations of NF1 (café-au-lait spots, freckling, and neurofibromas), the presence of other manifestations such as nevus anemicus and juvenile xanthogranuloma may be of high predictive value in patients with an uncertain diagnosis. Localized or mosaic NF1, also known as segmental neurofibromatosis, is caused by a postzygotic mutation responsible for the presence of the typical disease manifestations limited to a body segment. Although no follow-up protocols are available for these patients with mosaic NF1, the risk of complications is much lower than in the generalized forms of the disease. Malignant tumors are, probably, the most feared complication of NF1. In decreasing order, the most frequent neoplasms are optic nerve glioma, malignant peripheral nerve sheath tumor, gastrointestinal stromal tumors, and pheochromocytomas. Most malignant peripheral nerve sheath tumors are the result of malignant transformation of plexiform neurofibromas and early diagnosis is a decisive factor in the prognosis. In conclusion, NF1 is a multisystemic disease that requires multidisciplinary follow-up with dermatologists playing an important role.
ISSN:1578-2190
2173-5778
1578-2190
DOI:10.1016/j.adengl.2016.05.019