Abstract

DUARTE, JM et al. REVIEW AND PRESENTATION OF NEUROFIBROMATOSIS TYPE 1 (NF1): CLINICAL CASE WITH VARIABLE PHENOTYPIC EXRESSIVITY. Rev. argent. dermatol. [online]. 2018, vol.99, n.3, pp.21-30.  Epub Sep 30, 2018. ISSN 1851-300X.

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease, is an hereditary genetic disorder with autosomal dominant inheritance and almost 100% of penetrance. Characteristically progressive and multisystemic, with predominant skin and nervous system involvement.

It is the most frequent neurocutaneous syndrome with an incidence of 1 per 3,000 births worldwide. Usual skin findings include cafe-au-lait macules, neurofibromas and freckles in non-photo exposed areas. We report the case of an 8-year-old male with a contributory family history and diagnostic phenotypic features for this disease.

Keywords : neurofibromatosis; von Recklinghausen disease; neurocutaneous syndromes; neurofibroma; lisch nodules.