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Year : 2016  |  Volume : 3  |  Issue : 2  |  Page : 102-107

A clinical study of neurofibromatosis-1 at a tertiary health care centre in south India

Department of Dermatology, Sri Ramachandra University, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Aditya Kumar Bubna
Assistant Professor, Department of Dermatology, Sri Ramachandra University, Porur, Chennai 600 116, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2349-5847.196302

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Background: Neurofibromatosis (NF)-1 is an autosomal dominant genodermatoses affecting numerous body systems. Though many associations are known, new findings encountered continue to intrigue the medical fraternity. Aim: A clinical study of various manifestations of NF-1. Methods: An observational study that was conducted on 30 patients with NF-1 over a period of 1 year. Results: Café-au-lait macules were identified in 28 (93.3%) patients. A family history of NF-1 was demonstrated in 10 (33.3%) patients. In 4 (13.3%) patients, plexiform neurofibromas were identified. Axillary freckling was seen in 27 (90%) patients and inguinal freckling in 17 (56.1%) patients. Lisch nodules were detected in 28 (93.3%) patients, conjunctival neurofibromas in 2 (6.7%) and conjunctival freckles in 3 (10%) patients. Bone changes were demonstrable in 8 (26.7%) patients. Blood pressure was normal in all our study subjects. Conclusion: In our setting, no gender preponderance of NF-1 was noted. Conjunctival freckling, an ocular pigmentary observation, was a new observation detected in 10% of our study subjects. An association of conjunctival neurofibroma along with cutaneous neurofibromas was seen in 2 (6.7%) patients. Rare radiographic findings like lytic lesions over skull bones and ribboning of metatarsal bones and ribs were detected in 2 (6.7%), 1 (3.3%) and 3 (10%) patients, respectively.

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