E- ISSN: 2822-4051
A Case of Pilomatricoma Associated with Neurofibromatosis Type 2 in Childhood [Tepecik Eğit Hast Derg]
Tepecik Eğit Hast Derg. 2022; 32(1): 151-154 | DOI: 10.4274/terh.galenos.2021.69783

A Case of Pilomatricoma Associated with Neurofibromatosis Type 2 in Childhood

Pınar Gençpınar1, Deniz Kızmazoğlu2
1İzmir Katip Çelebi Üniversitesi, Tepecik Eğitim ve Araştırma Hastanesi, Çocuk Nöroloji Kliniği, İzmir, Türkiye
2Sağlık Bilimleri Üniversitesi, İzmir Tepecik Eğitim ve Araştırma Hastanesi, Çocuk Onkoloji Kliniği, İzmir, Türkiye

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.

Keywords: Child, neurofibromatosis type 2, pilomatricoma, Schwannoma

Pınar Gençpınar, Deniz Kızmazoğlu. A Case of Pilomatricoma Associated with Neurofibromatosis Type 2 in Childhood. Tepecik Eğit Hast Derg. 2022; 32(1): 151-154

Corresponding Author: Deniz Kızmazoğlu, Türkiye
Manuscript Language: English
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