Lammoglia OL, Rodríguez SM, Martínez LE, Merino RA, Moreno CG

Language: Spanish
References: 19
Page: 196-199
PDF size: 139.48 Kb.

ABSTRACT

Segmental neurofibromatosis is a rare disease of which four subtypes have been described, and is currently considered an alternative form of the classical NF1.
It is 10-30 times less common than classical NF1 with an estimated prevalence of 1 in 40 000 individuals; it affects Caucasians, females and usually occurs in the second decade of life. The usual presentation is neurofibromas affecting a single body segment, usually the right side, with the most affected areas being cervical and thoracic. For this atypical clinical course, many authors think it is underdiagnosed.
The diagnosis is clinical and primary approach should be aimed at detecting the widespread disease and its complications. Despite the fact that it was initially described as a benign disease without systemic involvement, there have been reports of several complications such as neurological, ophthalmologic, skeletal and a strong association with malignancy as in nf1. Several authors have raised the possibility of a long-term monitoring for these patients.
The disease has a variable course and there is no cure, but neurofibromas may be treated with surgical procedures, although relapse is common.

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