What condition is characterized by the presence of both neurofibromas and cafe-au-lait spots?

Neurofibromatosis type I is characterized by the presence of neurofibromas and café-au-lait spots. Individuals with this condition typically develop multiple neurofibromas, which are benign tumors arising from nerve tissue. Additionally, café-au-lait spots, which are pigmented lesions often present in early childhood, are a hallmark of the disorder. The genetic basis of neurofibromatosis type I is linked to a mutation in the NF1 gene, which plays a crucial role in neurodevelopment and tumor suppression.

In neurofibromatosis type I, the café-au-lait spots usually appear before the neurofibromas, with a specific diagnostic criterion indicating that having six or more such spots is suggestive of the condition. This combination of cutaneous manifestations (café-au-lait spots) and peripheral nerve tumors (neurofibromas) is distinctive for neurofibromatosis type I.

Neurofibromatosis type II is characterized primarily by bilateral vestibular schwannomas and does not typically include café-au-lait spots as a diagnostic feature. Sturge-Weber syndrome is a neurocutaneous disorder associated with facial port-wine stains, leptomeningeal angiomatosis, and neurological deficits,