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Neurofibromatosis, segmentalQ85.0

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 25.01.2023

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Synonym(s)

Neurofibromatosis type IV; Neurofibromatosis type V

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DefinitionThis section has been translated automatically.

Atypical ("variant") form of neurofibromatosis. The clinical features of neurofibromatosis type I, II or III are not fulfilled. There is a diffuse distribution of café-au-lait stains and neurofibromas.

Occurrence/EpidemiologyThis section has been translated automatically.

Segmental NF1 is much rarer than "generalized" NF1. It affects 1 in 36,000 people compared to 1 in 2,500 for the common form of NF1.

EtiopathogenesisThis section has been translated automatically.

Somatic, postzygotic mutation with the risk of germline mosaicism (see mosaicism below).

LocalizationThis section has been translated automatically.

Unisegmental neurofibromas are mainly located in cervical to sacral segments, bilaterally or exclusively thoracolumbar.

Clinical featuresThis section has been translated automatically.

Symptomatology corresponding to peripheral neurofibromatosis (NF type I) with atypical distribution of clinical symptoms. Exclusive involvement of one or more dermatomes or arrangement in a mosaic pattern. Associations with Cobb syndrome, a cutaneomeningospinal angiomatosis have been described (Pascual-Castroviejo I et al. 2008).

TherapyThis section has been translated automatically.

Corresponding to peripheral neurofibromatosis.

LiteratureThis section has been translated automatically.

  1. Gerhards G et al (1992) Unilateral lentiginosis - a segmental neurofibromatosis without neurofibromas. Dermatologist 43: 491-495
  2. Happle R (1991) Segmental neurofibromatosis and germline mosaicism. Dermatologist 42: 739-740
  3. Leverkus M et al (2003) Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis? Br J Dermatol 148: 804-809
  4. Listernick R et al (2003) Segmental neurofibromatosis in childhood. Am J Med Genet 121A: 132-135.
  5. Nagaoka Y et al (2002) Bilateral segmental neurofibromatosis. Acta Derm Venereol 82: 219-220.
  6. Pascual-Castroviejo I et al (2008) Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report. Neuropediatrics 39:341-343.
  7. Rose I et al (1991) Bilateral segmental neurofibromatosis. Dermatologist 42: 770-773
  8. Toy B (2003) Segmental neurofibromatosis. Dermatol Online J 9: 26

Authors

Last updated on: 25.01.2023

Author: Prof. Dr. med. Peter Altmeyer