Multiple cutaneous plexiform schwannomas revealing neurofibromatosis type 2 in a child - report of a novel mutation in this rare association

摘要

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder caused by mutations in a tumor suppressor gene located on chromosome 22ql2. The average age of onset of first symptoms is between 18 and 24 years old. Vestibular schwannomas are considered the hallmark of the disease but other tumors and ocular abnormalities are also common [1]. In NF2, skin tumors have received less attention than in NF1, probably because they are relatively inconspicuous in most patients [2].A 12-year-old boy with a 4-year history of multiple small subcutaneous nodules and hyperpigmented macules on the abdomen and arms (figure 1A), which gradually became enlarged and numerous, was admitted for the investigation of right hemiparesis. Previous to the neurological symptoms no evaluation of the cutaneous lesions was done. Brain and medullar MRI revealed bilateral vestibular schwannomas and medullar multifocal ependymoma.