Neurofibromatosis and secondary acoustic neuroma.
von Recklinghausen's disease, neurofibromatosis, is a neurocutaneous, systemic disease characterized by central nervous system tumors and disorders, café-au-lait spots, generalized cutaneous neurofibromas, skeletal deformities, and somatic and endocrine disorders. It is an autosomal dominant, hereditary disorder occurring in approximately 1 in 2500 births with a 50% affliction rate among family members. This patient had both systemic and ocular manifestations of the disease. She had neurofibromas of the face, neck, and iris, café-au-lait spots on neck and arms, short stature, hypothyroidism, and scoliosis. She reported occasional headaches of varying duration and intensity.
D005260:Female; D006801:Humans; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics; D009464:Neuroma, Acoustic / Q000209:etiology*