Abstract
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, with near complete penetrance and variable clinical presentation. Patients classically have café-au-lait macules, neurofibromas, skin freckles, and Lisch nodules, among other multisystemic features. Long-term management in a multidisciplinary team focuses on surveillance and treating complications. NF1 is a rare disease in Kenya, often leading to myths and misconceptions about its nature, especially among rural communities. We present a classical case from rural Kenya whose diagnosis was delayed by a belief that it was the result of a curse. We aim to highlight the importance of making this diagnosis and its linkage to a long-term care plan within a primary health care setting.
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