Clinical and Therapeutic Features of Neurofibromatosis in Ghana

Introduction. Neurofibromatosis (NF) is a generalized form of benign tumors of the peripheral nerves involving the skin; subcutaneous tissue; and bone. It comprises neurofibromatosis type 1 (NF-1); neurofibromatosis type 2 (NF-2); and schwannomatosis. Objective. To document the clinical and epidemiological features of patients with NF presenting at Komfo Anokye Teaching Hospital (KATH) in Kumasi; Ghana; from January 2009 to December 2013; and the outcome of management. Patients and methods. This is a retrospective study. Data on all patients managed within the study period were retrieved from the records of the surgical outpatient department (SOPD) of KATH and theater records and analyzed. Results. Fifteen patients underwent surgery for function impairing and disfiguring lesions; comprising five males and 10 females. Their ages ranged from three years to 55 years; with a mean age of 27.3 years. Seventeen lesions were found on the 15 patients that required surgery: 10 on the head and neck; three on the trunk; two on the upper limbs; and two on the lower limbs. Three of the lesions were neurofibromas; 14 were plexiform lesions. Fourteen patients had NF-1; only one patient had NF-2; there were no cases of schwannomatosis. Debulking was done for 12 patients; this was combined with suspension in two cases and enucleation in one case. Excision was done for five patients. Eight of the lesions recurred and the patients underwent a second debulking procedure. Conclusion. NF causes disfigurement and functional deficits in affected patients. Surgery can achieve symptomatic relief. Early presentation is recommended for optimal results

Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis.

A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis type 1 (NF1) was not reported before. Here, we describe a AEXS presenting with prepubertal gynecomastia in an Egyptian child with NF1 that improved with aromatase inhibitors.

Neurofibromatosis: estudios casuístico, aspectos particulares / Neurofibromatosis:case study, particular aspects

Considerando que la neurofibromatosis de Von Recklinghausen, compromete no sólo la piel, sino también órganos internos, motiva este trabajo sus hallazgos inusuales. Del total de los pacientes con dicha genodermatosis, 28 de ellos tenían lesiones poco frecuentes. En piel, manchas "café con leche" gigantes, angiomas; nevos: anémico, acrómico, pigmentarios y pilosos; no encontrando bibliografía al respecto de nuestros casos con atrofodermia nevoide del dorso, nevo spilus. Tumorales benignas: neurinoma plexiforme, neurofibromas de paladar, palmoplantares, xantogranulomas juveniles, síndrome de Francois (caso n* 19), hamartoma del folículo piloso; el caso n* 28, la forma segmentaria bilateral, constituye el 4to. caso de distribución bilateral de la bibliografía internacional. Maligna: neurofibrosarcoma (caso n* 10). Endocrinológicas: feocromocitoma, acantosis nigricans e hipertricosis. Oseas: escoliosis, hipertelorismo, hemivértebra. Oftalmológicas: despigmentación del iris, estrias angioides. Auditivas. Psiquiátricas. Neurológicas.