Ann Dermatol.  1999 Apr;11(2):109-111. 10.5021/ad.1999.11.2.109.

A Case of Segmental Neurofibromatosis

• Choi GS
• Lee J
• Won DH
• Koo SW
• Lee JH
• Kim YK

• KMID: 2359744
• DOI: http://doi.org/10.5021/ad.1999.11.2.109

Abstract

Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait spots and neurofibrobmas, or only neurofibroma, limited to one region of the body. Disease-associated systemic involvement is uncommon. Most patients with segmental neurofibromatosis do not have a family history of neurofibromatosis. In Korea, there have been 3 reported cases of segmental neurofibromatosis. None of them had caf6-au-fait spots, systemic involvement, or family history. This report describes a case of segmental neurofibromatosis in a 25-year-old woman who had Becker's nevus-like cafe-au-lait spots and this was linked to the presence of Fanconi's syndrome in a second degree relative of the patient.

Keyword

Cafe-au-lait spot; Fanconi's syndrome; Segmental neurofibromatosis

MeSH Terms

Adult
Cafe-au-Lait Spots
Female
Humans
Korea
Neurofibroma
Neurofibromatoses*
Neurofibromatosis 1