Neurofibromatosis Type I (von Recklinghausen's disease)
Neurofibromatosis type I is characterised by cafe-au-lait spots and the development of neurofibromas. Central precocious puberty may often occur in association with optic gliomas or neurofibromas of the hypothalamopituitary area (Fig. 13.32). This disorder has an autosomal dominant pattern of inheritance, with an incidence of one in thirty-four thousand. Bone abnormalities such as cysts, hemihypertrophy, bowing, scoliosis, skull and facial defects, dumbbell-shaped neurogliomas of the spinal nerve roots, and Lesch nodules of the eyes, and an association with other neoplasms such as central nervous system astrocytomas, ependymomas, meningiomas, neurofibromas, neurofibrosarcomas, rhabdomyosarcomas and nonlymphocytic leukaemia, are also found. Phaeochromocytomas may also develop in affected adults.
