[Morpho-functional iterative surgery in a patient with von Recklinghausen disease]. / Chirurgia reiterativa morfofunzionale in paziente con malattia di von Recklinghausen. Case report.

ABSTRACT

Neurofibromatosis 1 is an autosomal dominant disease with an estimated incidence 12500 to 13000 live newborns. The disease presents with multiple cutaneous and non cutaneous lesions. NF1 occurs with equal frequency in males and females and has been identified in all ethnic group. The morbidity and the mortality caused by NF1 are the result of complications that may involve any of the body systems. This disease has been linked with mutations of the NF1 gene which encodes tumor suppressor neurofibromin. At least half of patients with NF1 will have only cutaneous involvement that is not considered to be a major medical problem, even though it can be a source of psychologic burden as a result of cosmetic disfigurement. The cardinal features of the disorder are cafè-au-lait spots, axillary freckling, cutaneous neurofibromas and Lisch nodules, but there are a lot of wide variety of complications affecting almost every system of the body, including the eyes (optic glioma), the nervous system (intracranial tumors), the skeleton (short stature, scoliosis), the endocrine and cardiovascular system (hypertension). Manifestations of NF1 vary at different times in an individual's life. Substantial variability exists among affected members of a single family. This variability confounds clinical management and the severity of the disease cannot be predicted. We present a case in young woman 24 years-old treated by reiterative plastic surgery.