Neurofibromatosis
Cardinal features: multiple pigmented birthmarks on skin (“café-au-lait” spots), multiple neurofibromas.
Two forms: neurofibromatosis type 1 (NF-1; von Recklinghausen disease, peripheral neurofibromatosis), neurofibromatosis type 2 (NF-2; central neurofibromatosis, bilateral acoustic neuromas).
Both autosomal dominant. NF-1 prevalence 1:3,000.
Molecular Genetics and Pathogenesis
NF-1: chromosome 17; neurofibromin gene.
NF-2: chromosome 22; merlin gene. Both tumor-suppressor genes; mutations lead to tumors.
Symptoms and Signs
NF-1: variable, progressive manifestations (see below).
NF-2: bilateral acoustic neuromas at about age 20. In contrast to NF-1, few café-au-lait spots, neurofibromas.
Segmental neurofibromatosis: café-au-lait spots, neurofibromas limited, usually affect upper body segment.
Cutaneous neurofibromatosis: pigmentary changes only.
Cutaneous Symptoms
Café-au-lait macules: pathognomonic lesion, present in almost all patients. Axillary or inguinal freckling.
Ocular Symptoms
Pigmented iris hamartomas (Lisch nodules) pathognomonic; almost all patients over age 20; only in NF-1.
Neurologic Symptoms
Related posts:
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
