Segmental neurofibromatosis: Report of two cases
- 5 September 2006
- journal article
- case report
- Published by Wiley in The Journal of Dermatology
- Vol. 33 (9), 635-638
- https://doi.org/10.1111/j.1346-8138.2006.00148.x
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 "café-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.Keywords
This publication has 14 references indexed in Scilit:
- Increased Expression of Segmental Neurofibromatosis with Bronchoalveolar Lung CarcinomaDermatology, 2004
- Segmental neurofibromatosis in childhoodAmerican Journal of Medical Genetics Part A, 2003
- Segmental NeurofibromatosisDermatology, 2002
- SEGMENTAL NEUROFIBROMATOSIS WITH IPSILATERAL RENAL AGENESISInternational Journal of Dermatology, 1996
- Segmental Neurofibromatosis with Only Macular LesionsPediatric Dermatology, 1993
- What is segmental neurofibromatosis?Journal of the American Academy of Dermatology, 1992
- Segmentak neurofibromatosisJournal of the American Academy of Dermatology, 1989
- Segmental neurofibromatosisArchives of Dermatology, 1987
- Neurofibromatosis: Clinical heterogeneityCurrent Problems in Cancer, 1982