Schwannomatosis

A neurofibromatosis characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without ACOUSTIC NEUROMAS or other signs of NEUROFIBROMATOSIS I (OMIM: 162200) or NEUROFIBROMATOSIS II (OMIM: 101000); neurilemmomas consist of SCHWANN CELLS. Some patients may develop MENINGIOMAS. Germline mutations in the SMARCB1 gene and somatic mutations in the NF2 gene have been identified. OMIM: 162091

Also Known As:

Neurilemmomatosis, congenital cutaneous; Schwannomatosis 1

Neoplasms: 1361496
- Hereditary Neoplastic Syndromes: 115
  - Neurofibromatoses: 834
    - Schwannomatosis: 90
- Neoplasms by Site: 4
  - Skin Neoplasms: 9184
    - Schwannomatosis: 90
- Neoplasms by Histologic Type: 2
  - Germ Cell and Embryonal Neoplasms: 4514
    - Neuroectodermal Tumors: 216
      - Neuroendocrine Tumors: 6524
        Neurilemmoma: 2220
        Schwannomatosis: 90
  - Nerve Tissue Neoplasms: 1
    - Nerve Sheath Neoplasms: 280
      - Neuroma: 1302
        Neurilemmoma: 2220
        Schwannomatosis: 90
      - Neurofibroma: 865
        Neurofibromatoses: 834
        Schwannomatosis: 90
    - Neuroectodermal Tumors: 216
      - Neuroendocrine Tumors: 6524
        Neurilemmoma: 2220
        Schwannomatosis: 90
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Skin Neoplasms: 9184
    - Schwannomatosis: 90
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Neurofibromatoses: 834
      - Schwannomatosis: 90
- Neurocutaneous Syndromes: 269
  - Neurofibromatoses: 834
    - Schwannomatosis: 90
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Neoplastic Syndromes: 115
    - Neurofibromatoses: 834
      - Schwannomatosis: 90
  - Nervous System Heredodegenerative Disorders: 62
    - Neurofibromatoses: 834
      - Schwannomatosis: 90

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