Neurofibromatosis and Secondary Acoustic Neuroma

ABSTRACT 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.