European Journal of Cardiovascular Medicine

Background: Neurofibromatosis type-1 (NF-1) is an inherited neuro-ectodermal disorder primarily defined by the presence of six or more café‐au-lait macules, intertriginous freckles, two or more neurofibromas, plexiform neurofibroma, lisch nodules, bony defects like sphenoid dysplasia, and optic gliomas. Due to gross cosmetic disfigurement and multisystem involvement, it can have heavy psychological and physical burdens, especially in countries like India, wherein skin disease is significantly stigmatized. Aim: The aim of the study was to understand various clinical and epidemiological patterns and complications of NF-1. Material and methods: We conducted a cross-sectional study on 47 clinically diagnosed patients with NF-1 at a tertiary care center in Bihar to understand various presentations and life-threatening complications in patients with Neurofibromatosis type-1. A detailed history was taken regarding onset, symptoms, family history, and associated co-morbidities. A comprehensive cutaneous, ophthalmological, neurological, and psychiatric evaluation was done. Ophthalmological screening via slit-lamp examination was done in all patients. Magnetic resonance imaging (MRI) was done in patients having neurological complaints and findings were subsequently analyzed. Results: A total of 47 newly diagnosed patients were enrolled in the study out of which 36 (76.6%) were males and 11 (23.4%) were females. The majority of patients belonged to the 40 to 49 years age group (29.78%) followed by the 30 to 39 years age group (27.65%). The mean age of total patients was 31.68 ± 13 years ranging from seven years to sixty-eight years. A family history of NF1 was positive in 22 patients (46.8%), with six (12.76%) patients reporting consanguineous marriage of their parents. All the cases of NF-1 presented with one consistent finding, that is, the prerequisite number and size of café au lait macules. The next most common presenting lesions were cutaneous neurofibromas and axillary freckling present in 38 (80.8%) and 26(55.31%) patients respectively. Plexiform neurofibroma was present in twelve (25.5%) patients. Clinical severity was assessed by DNB (dermatological, neurological, and bone manifestations) classification of Japan and the majority of patients (38.29%) were classified as Stage 3 followed by Stage 4 (23.4%). The most common ocular finding was lisch nodules, present in 28 patients. The most common neurological abnormality present was cognitive dysfunction (12.7%) followed by seizures (4.2%). Conclusion: Neurofibromatosis type-1 is a life-long neurocutaneous disorder with an extremely unpredictable clinical course. Although the majority of patients have a benign course, there’s a small subset of patients who develop debilitating and life-threatening complications. To provide optimal care, treating physicians must be aware of its diverse presentations and rare complications, so as to prevent them at comparatively earlier stages and prevent chronic disabilities.