All are seen in neurofibromatosis EXCEPT?
Shagreen patch REF: Harrison's 17th ed chapter 374 "Shagreen patch is seen in tuberous sclerosis" Feature NF1 NF2 Mutation NFl gene on chromosome 17 causes NF2 gene on chromosome 22q. von Recklinghausen's disease. The NFl NF2 encodes a protein called gene is a tumor-suppressor gene; it encodes a protein, neurofibromin neurofibromin 2, schwannomin, or merlin Cutaneous feat cutaneous neurofibromas, pigmented lesions of the skin called cafe au lait spots, freckling in non-sun-exposed areas such as the axilla, hamaomas of the iris termed Lisch nodules, and pseudoahrosis of the tibia Multiple cafe au lait spots and peripheral neurofibromas occur rarely Complications Aqueductal stenosis with hydrocephalus, scoliosis, sho stature, hypeension, epilepsy, and mental retardation may also occur. A characteristic type of cataract, juvenile posterior subcapsular lenticular opacity, occurs in NF2 Neurological features Patients with NF1 are at increased risk of developing nervous system neoplasms, including plexiform neurofibromas, optic pathway gliomas ependymomas, meningiomas astrocytomas, and pheochromocytomas. Neurofibromas may undergo secondary malignant degeneration and become sarcomatous. NF2 is characterized by the development of bilateral vestibular schwannomas in >90% of individuals who inherit the gene Patients with NF2 also have a predisposition for the development of meningiomas, gliomas, and schwannomas of cranial and spinal nerves
Meningioma
Lisch nodule
Axillary freckling
Shagreen patch