Journal of Neurology and Neuro Toxicology


The Different Characteristics of Neurofibromatoses and Their Neurologic, Cognitive and Psychiatric Alterations

Author(s): Marco Poloni, Mariarosa Rottoli, Emanuela Agazzi, Regina Barbò, Nicola Poloni

Neurofibromatoses are neurocutaneous diseases with similar pathogenesis. The first description of NF1 is due to von Recklinghausen in 1882, while a NF2 case was known since 1822 but remained joined to NF since 100 years later as central variant; both display autosomal dominant transmission. Only in 1993 these diseases were recognized as totally different, being carried by different chromosomes (17 for NF1, 22 for NF2). NF1 is much more frequent than NF2, featuring cutaneous, sub-cutaneous and plexiform neurofibromas, Lish nodules, café-au-lait macules (CALMS), freckling, learning disabilities and skeletal malformations together with Central Nervous System and Spinal tumors (gliomas, astrocytomas and meningiomas); 10% possibility of malignant transformation exists. Neurologic, cognitive and Psychiatric abnormalities are reviewed much more deeply. The cardinal manifestation of NF2 is bilateral cochlear-vestibular schwannoma with additional tumors (cranial and radicular schwannomas, meningiomas, brain and spinal ependymomas); cutaneous signs are less frequent than in NF1, but the prognosis is worst. In Schwannomatosis several schwannomas arise on peripheral nerves with pain at pressure; VIII° nerve tumors are lacking. Legius syndrome is carried by chromosome 15, has cutaneous alterations like NF1, learning disabilities, but non tumor predisposition. Other syndromes featuring CALMS exists together with tissue abnormalities, while Proteus (or Elephant-man) syndrome is characterized by asymmetrical tissue overgrowth with deformities.

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