[Obstructive jaundice by genodermatosis--case report].

BACKGROUND

Neurofibromatosis type I, or Recklinnghausen disease, is the most frequently occurring neurofibromatosis, in 1/3000-11,5000 of children born. This disease is a genodermatosis with 1/3000-1/5000 autosomal dominant transmission. Incriminated in the pathological appearance of the disease gene is located on chromosome 17, gene product, neurofibromina, is a protein involved in controlling cell differentiation and proliferation. Skin manifestations can be associated with the same papillary tumors and the internal organ. Treatment is surgery for larger tumors. Worse prognosis in malignant developpment, with the lower quality of life in the presence of complications, as in this case: mechanical obstructive jaundice.

MATERIAL AND METHOD

Patients aged 75 years, admitted for obstructive jaundice (progressive, pruritic), cutaneous papillomas (0.5-3 cm) on the trunk and several hyperpigmented brown spots (5-6 cm diameter). Cutaneous lesions (45 years old) have been previously diagnosed by histological examination.

RESULTS

We did surgery under general anesthesia: cholecystectomy, intraoperative choledocoscopy of bile duct. In the last portion of bile duct we found pedicled tumors. We did partial excision of tumors and coledoco-duodenoanastomosis in healthy tissue. Histological examination showed neurofibrodermatoza type I. Discharge 12 days postoperatively.

CONCLUSIONS

Preoperative diagnosis suggested the possibility of mechanical jaundice by malignancy. Etiologic diagnosis of this rare form of obstructive jaundice could not be established before surgery, only by histological examination of the excised tumors.