Cutaneous Manifestations Of Neurofibromatosis Type 1 In South India

Abstract

Neurofibromatosis type 1 (NF-1) is the most common form of neurofibromatosis. Since the significance of various cutaneous manifestations of NF-1 has not been known in Indian population, hence, the present study was undertaken. A total of 40 patients with NF-1 were identified between August 1998 to June 2000 with a prevalence rate of 20.4 per 10,000 individuals attending our clinic. Male to female ratio was 2.3: 1. The age of the patients ranged from 15 to 70 years with a mean age of 29.57 years. Most patients (18 cases) belonged to age group of 21-30 years followed by 11-20 years age group (11 cases). Twenty four cases had onset of disease between 11-20 years of age and ten cases in 21-30 years age group. Thirty one of 40 cases presented with asymptomatic nodules, three sought medical opinion for cosmetic reasons and another three for hyper pigmented patch. Analysis of cutaneous manifestations showed, 39 of 40 cases (97.5%) had neurofibromas. Palmar melanotic macules were noted in 36 (90%) cases whereas café â€" au-lait macules were seen in 33(82.5%) cases. Subsequent, less common findings were intertriginous freckles in 31(77.5%) cases, plantar melanotic macules in 18(45%) cases and generalized freckles in 4(10%) cases. Statistical analysis of cases and controls revealed significant association of NF-1 with neurofibromas, palmar melanotic macules, café-au-lait macules, intertriginous freckles and plantar melanotic macules(p<0.001). This study brings into focus some of the cutaneous manifestations noted in South Indian patients especially palmar and plantar melanotic macules, not highlighted in the western literature.