PINAR GENÇPINAR, DENİZ KIZMAZOĞLU
Anatolian Journal of General Medical Research - 2022;32(1):151-154
Neurofibromatosis type 1 is the most common neurocutaneous syndrome, however neurofibromatosis type 2 (NF2) is extremely rare in childhood. It is inherited as autosomal dominant. Spontaneous mutation is detected in half of the cases and there is no family history. It is caused by a mutation of a tumor suppressor gene located on the chromosome 22. NF2 affected individuals also have a much higher rate of cancer. For the diagnosis, Manchester diagnostic criteria are used: Bilateral vestibular Schwannoma (VS) or family history of NF2 plus unilateral VS or any two of meningioma, glioma, neurofibroma, Schwannoma, posterior subcapsular lenticular opacities. We reported a case of NF2 presented with peripheral Schwannoma associated with scalp-located pilomatrixoma.
