Neurofibromatosis, segmental Q85.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 08.05.2024

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Synonym(s)

Neurofibromatosis type IV; Neurofibromatosis type V

Definition
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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/Epidemiology
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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.

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

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

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

Therapy
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Literature
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  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

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 08.05.2024