Clinico-Pathologic Presentation and Management of neurofibromatosis type 1(Von Recklinghausen's) Disease among North-Eastern Nigerians: A six year review

Abstract

Objective: Neurofibromatosis type 1 is not an uncommon disorder, its prevalence is said to be around 1 in 2000-4000 live birth. It has diverse manifestations that may affect any part of the body and present to clinician of any specialty, however, little or no attention have been given to area of neurological, ophthalmological and auditory complications in these patients. This study is aimed at evaluating the clinical, histological
presentation and to highlight the need of multi disciplinary approach in the management of this condition.
Methodology: The case records of patients who presented with clinical signs and request form with histologically proven neurofibromatosis were retrieved and reviewed from University of Maiduguri Teaching Hospital and Federal Medical Center Azare from January 2000-December 2005. The clinical characteristics, histological reports and complications were evaluated. Information such as the age, sex, site and histological diagnosis were extracted from the patient's case notes and
histology request form.
Results: Forty seven patients fulfill the diagnostics criteria of the national institute of health consensus development conference NIHCDC. The age range was 10-65yrs, with the mean of 27.85yrs. There were 23 males and 24 females, sixteen patients had a positive family history of similar condition in a first degree relative and three are from same parents. Forty one had cutaneous fibroma (87.2%) while 6 (12.8%) were plexiform.
Twenty-nine patients had café a lait lesion (61.7%), while 30(63.8%) presented with axillary and or inguinal freckling. One of the cases presented with osseous lesion and hypertension.  The commonest site of neurofibroma was the trunk 16(34%), head and face 11(23%), then the lower limb 10(21.8%). Treatment modality was mainly excision of neurofibroma.
Conclusion: This study have documented that NF1 is not an uncommon disorder in this region and has no sex predilection and present commonly within the second and third decade of life when dermal neurobribroma start to occur in the skin; the trunk, head and face being the commonest area of affliction. Attention is to be paid to neurological, ophthalmological and
auditory systems in the evaluation of the patients and to follow up these patients for a long time to evaluate the long term complications.

Niger Med J. Vol. 50, No. 4, Oct.–Dec., 2009: 80–83

Key words: Neurofibromatosis type 1 (NF1), Clinico-pathologic presentation and management