Resumo

CAMPOLLO RODRIGUEZ, Idalmis; RODRIGUEZ ROJAS, José Luis  e  LIMACHE YARINGANO, Leonor Maribel. Segmentaryneurofibromatosis: a case presentation. AMC [online]. 2011, vol.15, n.6, pp. 1020-1027. ISSN 1025-0255.

Background: neurofibromatosis constitute a group of neurocutaneous diseases, of dominant autosomal heredity that show extreme clinical heterogeneity and characterized by abnormal growth of tissues derived from the embryogenic neural crest, affecting therefore the skin, soft tissues, nervous system and bone. Objective: to report a case of segmental neurofibromatosis. Clinical case: a 42 years old, white skin, female patient with health antecedents, which presented a segmental neurofibromatosis with neurofibroma as unique manifestation of the disease. Conclusions: segmental neurofibromatosis is an infrequent disease and difficult to handle due to the high recidivation rate of neurofibroma. Genetic counseling is very important, as in the rest of neurofibromatosis. If patients have gonadal mosaicism may have offspring with classical NF1. Patients with this type of NF have lower risk of developing malignant tumors of peripheral sheath, but follow-up is still recommended.

Palavras-chave : NEUROFIBROMATOSIS 1; NEURAL CREST; MOSAICISM; ADULT; CASE STUDIES.

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