Introduction:

Neurofibromatosis (NF) is an autosomal dominant neuro-cutaneous disorder. Eight subtypes of the disease have been proposed till date; neurofibromatosis type –1 (NF1) being the commonest variety.

Objective:

Objective of our present study had been to review the prevalence and patterns of muco-cutaneous manifestations amongst patients of NF-1, in a population from eastern India.

Methods:

This was a clinical, observational, cross sectional study.

Results:

A total of 51 patients were evaluated. The mean age of the patients was 22.6 years with a male-to-female ratio of 0.7. Positive family history in first-degree relatives was found in 18 (35.3%) patients. Forty-nine patients (96.1%) had neurofibromas including 8 (15.7%) patients of plexiform neurofibromas. All of our patients had café-au-lait macules (CALM) and freckling was present in 49 (96.1%) patients. Other associated features in our patients were vitiligo (3, 5.9%), hairy nevus unrelated to plexiform neurofibroma (2, 3.92%), verrucous epidermal nevus (1, 2%), and lichen amyloidosus (1, 1.96%). Macroglossia was found in 2 (3.9%) patients and palatal papules in 2 (3.9%) patients. Nail dystrophy was found in only one patient. More than 2 Lisch nodules were found in 45 (88.3%) patients. Mental retardation was found in 5 (9.8%) patients and learning disabilities were noted in15 (29.4%) patients.

Conclusion:

Most of our observations were in conformity with the prevailing data. However, a little more prevalence of CALM and freckles were noted. Positive family history and prevalence of plexiform neurofibromas and axillary freckling were less frequently seen. The occurrence of freckles exclusively on face and the association of vitiligo with NF-1 were notable features.

Keywords: neurofibromatosis type-1, mucocutaneous, neurofibroma, café-au-lait macules