Related Experiment Videos
Segmental neurofibromatosis: case reports and review
C M Hager1, P R Cohen, J A Tschen
1Department of Dermatology, Universität zu Köln, Germany.
Journal of the American Academy of Dermatology
|November 21, 1997
Summary
Segmental neurofibromatosis (neurofibromatosis type V) is a rare condition affecting one body area. Most patients (93%) lack a family history, and systemic involvement is uncommon.
Area of Science:
- Medical Genetics
- Dermatology
Background:
- Segmental neurofibromatosis (NF-V) is a rare variant of neurofibromatosis.
- It is characterized by localized café-au-lait macules and/or neurofibromas.
Observation:
- This review describes three new cases and analyzes 82 reported cases globally.
- The median age of onset is 28 years, with a 58% incidence in women.
- Neurofibromas typically affect cervical or thoracic dermatomes, are unilateral, and more common on the right side.
Findings:
- Café-au-lait macules present in 26% of patients; axillary freckling in only 9%.
- Disease-associated systemic involvement is rare.
- A significant majority (93%) of patients have no family history of neurofibromatosis.
Implications:
- Understanding the clinical presentation and epidemiology of segmental neurofibromatosis is crucial for diagnosis.
- The sporadic nature of most cases suggests a high rate of de novo mutations.
- Further research may elucidate the specific genetic underpinnings and potential therapeutic targets for this rare disorder.