Detecting Manifestations of Neurofibromatosis: Cutaneous Diagnostic Criteria for NF1 and NF2

Abstract

Neurofibromatosis is a hereditary condition that causes tumors to form in the brain, spinal cord, and nerve regions. Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2) are the two of the most common subtypes. We performed a literature review on Pubmed under the following search and included the 24 most cited papers between 2012 and 2024: “Neurofibromatosis AND (Cutaneous OR Skin) AND (Diagnostic Criteria OR Diagnosis) AND (NF1 OR NF2)”. In our review, both types can manifest cutaneous symptoms, which aid in early detection. Between the two types, NF1 is more common with an estimated prevalence of 1 in 3000, compared to NF2’s 1 in 60,000. NF1 is distinguished by café-au-lait spots, freckling, and neurofibromas; NF2 presents similar to NF1 but may also have characteristic bilateral vestibular schwannomas. While both conditions may exhibit cutaneous manifestations, NF1 primarily presents with such features, whereas NF2 is distinguished by intracranial manifestations. Early detection of cutaneous symptoms is critical for prompt intervention and management of neurofibromatosis. More research is needed to elucidate the detection of neurofibromatosis in clinical practice as differentiation may be challenging.