Malignant transformation in von recklinghausen disease in a rural farmer presenting as huge metastatic soft tissue chest wall tumour: a case report

Abstract

Introduction: Although von Recklinghausen disease is relatively common at an incidence of 1 in 4000 live births, malignant transformation in a neurofibromatosis is quite rare estimated at about 5% therefore the importance of life-long follow up of all patients von Recklinghausen disease.

Case presentation: This is a case report of a 45-year old Nigerian-Ibibio male farmer who presented with six months history of rapid growth in one of the numerous skin nodules which had been present since his teenage age. The clinical diagnosis of malignant change in von Recklinghausen's disease was confirmed by histopathologic examination of an incisional biopsy specimen. Radiological investigations also showed the metastatic status of the disease. The patient could not afford the cytotoxic chemotherapeutic agents prescribed. He therefore left the hospital and failed to return when a free-treatment voucher was ready for treatment in the following two days. He is assumed dead at home.

Conclusion: Lifelong follow up for von Recklinghausen disease is emphasized to enable early detection of malignant change and also expansion of the national health insurance scheme to benefit the unemployed citizens.