Elsevier

Pediatric Neurology

Volume 36, Issue 1, January 2007, Pages 51-53
Pediatric Neurology

Case report
Bilateral Segmental Neurofibromatosis: A Case Report and Review

https://doi.org/10.1016/j.pediatrneurol.2006.07.011Get rights and content

Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.

Introduction

The neurofibromatoses, defined as an entity that includes a heterogeneous group of disorders affecting the nervous system and the skin, covers several distinct features clearly differentiated from one another. In the last two decades, the clinical diagnostic criteria and molecular delineation of different forms of neurofibromatosis have changed. A good example of this is represented by segmental neurofibromatosis, a rare condition 10 to 20 times less frequent than neurofibromatosis type I, whose prevalence has been estimated as 1/40,000 individuals in the general population (i.e., more common than generalized neurofibromatosis type II) [1], [2].

This peculiar variant of neurofibromatosis is characterized by neurofibromas or café-au-lait macules confined to a circumscribed body segment. First references to segmental neurofibromatosis were made by Gammel in 1931, and later by Crowe et al. in 1956, with four published cases [3], [4]. Two decades later, Miller and Sparkes proposed the term segmental neurofibromatosis[5].

This report describes a case of bilateral segmental neurofibromatosis. Because of its rarity, there are only 20 cases published in the English literature [1].

Section snippets

Case Report

A 10-year-old male was referred for evaluation of numerous cutaneous nodules and a café-au-lait spot on his back. From birth this individual has had a unique brownish macula on his back, and at the age of 2, numerous soft-to-firm papules and nodules appeared in the same location. There was no history of seizures or other neurologic disorders. No other members of his family exhibited a similar condition.

Physical examination revealed multiple soft, skin-colored nodules, sitting on a big isolated

Discussion

Since Von Recklinghausenx2019;s first description of neurofibromatosis type I in 1882, many classifications have been suggested, owing to the great variability on its clinical presentation. Based on clinical features and inheritance, one hundred years later Riccardi proposed a classification of neurofibromatosis which included seven different types and an eighth category for cases “not otherwise specified” (Table 1)[6]. Segmental neurofibromatosis (classified as type V by Riccardi) is

References (16)

  • V.M. Riccardi

    Neurofibromatosis: Clinical heterogeneity

    Curr Probl Cancer

    (1982)
  • S. Niiyama et al.

    Segmental neurofibromatosis

    Acta Derm Venereol

    (2005)
  • M. Ruggieri et al.

    Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): No longer neurofibromatosis type 5 (NF5)

    Am J Med Genet

    (2001)
  • J.A. Gammel

    Localized neurofibromatosis

    Arch Dermatol Syphilol

    (1931)
  • F.W. Crowe et al.

    Clinical, pathological, and genetic study of multiple neurofibromatosis

  • R.M. Miller et al.

    Segmental neurofibromatosis

    Arch Dermatol

    (1977)
  • R.R. Roth et al.

    Segmental neurofibromatosis

    Arch Dermatol

    (1987)
  • F. Redlick et al.

    Segmental neurofibromatosis follows Blaschkox2019;s lines or dermatomes depending on the cell line affected: Case report and literature review

    J Cut Med Surg

    (2004)
There are more references available in the full text version of this article.

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