Neurofibromatosis type 1 – A clinical case report and management review

Abstract

INTRODUCTION: Neurofibromatosis Type 1 (NF1) or Von Recklinghausen’s disease, is a rare genetic disease characterized by multiple benign tumors of nerves and skin (neurofibromas), and skin decorations. However, it is multisystem and can affect each organ in the body, leading to debilitating effects. CLINICAL CASE: We present a case of an 18-year-old girl with NF1. The disease onset started in childhood at the age of 3 years with the appearance of hyperpigmented skin macules. Her mother also presented with multiple nodules on the face and trunk, and her little brother was reported to have disseminated macules. She had poor performance at school and delayed menses. The diagnosis of NF-1 was made, and a multidisciplinary team was involved in management of the patient CONCLUSION: Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis and requires management by multidisciplinary team

Keywords

• neurofibromatosis type 1
• von recklinghausen’s disease
• chromosome
• autosomal