Neurofibromatosis. About a case

Abstract

Background: Type 1 neurofibromatosis is one of the most common neurocutaneous genetic disorders. The characteristic of this disease is skin involvement in the form of café-au-lait spots, ephelides, and the characteristic cutaneous neurofibromas. Objective: To present a clinical case of a 23-year-old patient, with a history of osteomyoarticular congenital malformations and multiple lesions and tumors disseminated through the skin, with evolutionary follow-up by a multidisciplinary team made up of genetics, dermatology and neurology that established the definitive diagnosis. based on clinical evidence, and imaging and histopathological studies. On physical examination, the presence of disseminated hyperpigmented macular lesions of café-au-lait color of approximately 0.5 to 2 cm in diameter was observed on the skin. He also presented disseminated subcutaneous nodules in the arm and trunk and subcutaneous tumors in the right arm extended from the shoulder to the elbow flexure, observing exuberant, wrinkled skin, soft on palpation, with some painful nodules. Surgical removal of the tumors and the exuberant skin and closure of the skin defect with a W plasty technique (local transposition flap consisting of triangular flaps that are interdigitated without tension thereby achieving length gain along the common arm of the W. The patient does not He presented postoperative complication. Conclusion: The W plasty is a reconstruction technique that can be a complementary reconstructive option considered in cases of Neurofibromatosis type I where extensive extirpation of the tumors and optimal skin coverage are required.