Segmental neurofibromatosis: Report of two cases


Sezer E., Senayli A., Sezer T., Bicakci U.

JOURNAL OF DERMATOLOGY, vol.33, no.9, pp.635-638, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 9
  • Publication Date: 2006
  • Doi Number: 10.1111/j.1346-8138.2006.00148.x
  • Journal Name: JOURNAL OF DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.635-638
  • Keywords: bilateral segmental neurofibromatosis, pectus excavatum, segmental neurofibromatosis
  • Yozgat Bozok University Affiliated: Yes

Abstract

Neurofibromatosis (NF), or von Recklinghausen's disease is comprised of a heterogeneous group of disorders, primarily affecting the skin, soft tissue, bone and central nervous system. Segmental neurofibromatosis (SN) is a rare form of NF, characterized by "cafe-au-lait" macules, freckles, and/or neurofibromas limited to a body segment. There are approximately 150 cases reported in the English published work. Bilateral segmental neurofibromatosis is a rare subtype of SN, manifesting with bilateral involvement of the body segments. Herein, we report two patients with SN; one associated with pectus excavatum, and the other case diagnosed as bilateral segmental neurofibromatosis. Asymmetry of the skull and thorax, kyphoscoliosis and segmental bone hypertrophy of the leg are skeletal abnormalities previously reported with SN. To the best of our knowledge, this is the first case of SN in association with pectus excavatum.