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Segmental neurofibromatosis - Skin in Child
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Segmental neurofibromatosis - Skin in Child

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Belinda Tan MD, PhD, Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD, Nancy Esterly MD
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Synopsis

Segmental neurofibromatosis, previously known as neurofibromatosis type V, is a rare disorder in which affected individuals have segmental distribution of neurofibromas and/or pigmentary change. Pigmentary changes include café-au-lait macules and freckling. The most common presentation is neurofibromas in a single body region. Isolated plexiform neurofibromas can also occur in segmental neurofibromatosis. Reports of Lisch nodules, learning disabilities, and optic gliomas in segmental neurofibromatosis exist but are not common.

Segmental neurofibromatosis is an example of cutaneous mosaicism, in this case caused by a postzygotic mutation in the tumor suppressor neurofibromin, the NF-1 gene product. Generally, patients with segmental neurofibromatosis lack a family history of neurofibromatosis. Genetic counseling in these patients is important, as gonadal segmental neurofibromatosis can theoretically transmit the genetic defect to offspring, who would display the full neurofibromatosis type I phenotype.

Codes

ICD10CM:
Q85.00 – Neurofibromatosis, unspecified

SNOMEDCT:
254241004 – Segmental neurofibromatosis

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Familial café-au-lait – patients will have multiple café-au-lait macules without other stigmata of neurofibromatosis. This condition will have a family history, whereas segmental neurofibromatosis typically does not.
  • LEOPARD syndrome – will include many additional features not seen in segmental neurofibromatosis including ECG abnormalities, hypertelorism, abnormal genitalia, growth retardation, and deafness.
  • Neurofibromatosis type 2 – a hallmark of this disease is schwannomas, which are not present in segmental neurofibromatosis.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 10/06/2015
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Segmental neurofibromatosis - Skin in Child
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Segmental neurofibromatosis : Dermatomal, Hyperpigmented patch, Intertriginous, Tumor, Unilateral, Hyperpigmented macules, Smooth nodules
Clinical image of Segmental neurofibromatosis
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