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A Case of Late-Onset Neurofibromatosis Speculated as Type 7: Brief Overview

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Neurofibromatosis (NF) is one of the commonest hamartoneoplastic syndromes and is an autosomal dominant neurocutaneous syndromes. NF type 1 and NF type 2 are the main forms of NF. NF type 3 to type 8 are very rare but accurate their incidences are not known. NF type 7 occurs rarely in late adulthood (from age 30 onward) and is characterized by schwannoma or neurofibroma, skin freckling, but no café-au-lait spot.  Recently, a first Japanese case of late onset NF speculated as type 7 was reported. A 65-year-old woman developed freckling on her skin from axillary to inguinal regions at age 40. At age 55 and 63, she had respectively, a subcutaneous tumor from her right buttock and a left acoustic tumor removed, in both cases, histopathological analyses diagnosed a schwannoma. At age 65, she was admitted to the hospital for a detailed examination of an abdominal mass previously detected by MRI. The patient had no family history of schwannoma, nor presented café-au-lait skin spots. The abdominal mass was diagnosed as a retroperitoneal tumor by enhanced-CT-scan, MRI and FDG-PET/CT. Needle biopsy examinations confirmed a schwannoma diagnosis. Thus, it is considered she is a very rare case of late-onset neurofibromatosis speculated as type 7.

Author(s)  Details

 Shunji Yasaki
Department of Neurology, Shin-yurigaoka General Hospital, Kawasaki, Kanagawa, Japan.

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