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Neurofibromatosis

Background

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by multiple neurofibromas, café-au-lait spots, and axillary freckling, which may be under-recognized in darker African skin due to subtle pigmentation contrasts. Café-au-lait spots may appear as slightly lighter or darker patches, requiring careful examination under good lighting. Diagnosis is clinical, based on NIH criteria, and management includes regular monitoring for complications like optic gliomas or skeletal abnormalities. There is no cure, but surgical removal of disfiguring neurofibromas and supportive care are key; MEK inhibitors (e.g., selumetinib) may help shrink inoperable plexiform neurofibromas.

Lesion

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by multiple neurofibromas

 

Lesion image
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References
  1. Odebode TO et al. Neurofibromatosis in Nigerian patients: challenges in diagnosis and care. Afr Health Sci. 2021.
  2. Korf BR. Neurofibromatosis 1: new approaches to treatment. Nat Rev Neurol. 2020.

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