Facial Plexiform Neurofibromatosis in a 16 Year-Old Female from Eastern Nigeria: a Rare Presentation

ABSTRACT

Plexiform neurofibromatosis or von Pleckinghausen's disease is an uncommon variety of neurofibromatosis type I; usually associated with trigeminal nerve. We report a rare case of the disease on the face of a 16 year-old female patient. The patient presented with overhanging mass of skin folds on the face; completely covering one eye and partially covering the second eye; as well as occasional pain and itching. Physical examination revealed the presence of cafe au lait macules; freckling in the axillary; optic glioma and iris hamartomas. Family history was not contributory. An interventional reconstructive surgical procedure with excision of surplus skin folds on the face and lip margin was performed on the patient. Doloneurobionr (paracetamol and vitamins B1; B6 and B12 combination) as well as Vecutenr (neomycin sulphate; clortrimazole and dexamethosone combination) cream were used to successfully manage the occasional pain and itching. There was evidence of re-growth of the tumours over a one year follow-up period