Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that is caused by inactivating mutations or a loss of both alleles in the NF2 tumor-suppressor gene. Bilateral vestibular schwannomas are considered to be the hallmark of this disease, with hearing loss and tinnitus which are caused by these tumors, usually presenting as the initial symptoms. In addition to other tumors and ocular findings, skin abnormalities also occur in NF2, however, they are not so characteristic as neurofibromatosis type 1 (NF1). We herein report a case of NF2 which occurred in a 5-year-old boy. He had multiple cutaneous tumors but did not have any symptoms related to vestibular schwannomas. He also had multiple depigmented spots. A histopathological examination revealed these tumors to be plexiform schwannomas; we therefore suspected NF2. As a result of magnetic resonance imaging with gadolinium enhancement, bilateral vestibular schwannomas were detected and a final diagnosis of NF2 was thus made. The association between NF2 and multiple depigmented spots is unknown, we therefore consider that multiple cutaneous plexiform schwannomas may strongly suggest an association with NF2.
Miyakawa
Takehiko
T
Department of Dermatology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Kamada
Noriaki
N
Kobayashi
Takashi
T
Hirano
Keiko
K
Fujii
Katsunori
K
Sasahara
Yoshitaro
Y
Nagai
Yuichiro
Y
Shinkai
Hiroshi
H
D002675:Child, Preschool; D006801:Humans; D008297:Male; D009442:Neurilemmoma / Q000473:pathology*; D016518:Neurofibromatosis 2 / Q000473:pathology*; D009464:Neuroma, Acoustic / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*