Abstract

S, Ortiz et al. NEUROFIBROMATOSIS: CASO CLÍNICO PRESENTACIÓN POCO HABITUAL. OPORTUNIDAD DIAGNOSTICA FAMILIAR. Rev. argent. dermatol. [online]. 2020, vol.101, n.3, pp.10-11. ISSN 1851-300X.

Neurofibromatosis is an autosomal dominant genodermatosis. The literature recognizes several different clinical syndromes within which three main forms are described: Neurofibromatosis type 1, Neurofibromatosis type 2 and Schwanomatosis. The most common of the three is NF1. With an incidence of 1 in 3000 and a penetrance of 100%, it presents a broad spectrum of clinical manifestations. We present a female case that initially consulted for pain related to a lesion compatible with neurofibroma with an epidermal and subcutaneous component. Without previous diagnosis of the disease at 33 years, we were able to diagnose all the members of his family, who also had no diagnosis.

Keywords : Genodermatosis; neurofibromatosis; schwanomatosis; autosomal dominant; neuro fibroma.