Medical management of neurofibromatosis 1: a cross-sectional study of 383 patients

J Am Acad Dermatol. 2003 Sep;49(3):440-4. doi: 10.1067/s0190-9622(03)01481-6.

Abstract

Background: The morbidity and mortality caused by neurofibromatosis 1 are a result of complications that may involve any of the body systems. Two models of management have been proposed for the detection of various complications in specialized neurofibromatosis clinics: investigation protocols (including extensive imaging and analysis of 24-hour urinary catecholamine levels); or clinical follow-up without imaging.

Objective: Our purpose was to validate the strategy of clinical follow-up (without routine imaging and 24-hour urinary catecholamine levels).

Methods: We retrospectively compared the number of treated complications during 2 successive periods from our database: screening investigations from November 1988 to June 1995 and clinical examination from July 1995 to June 2000.

Results: The number of treated complications during the 2 periods was not statistically different (27/166 vs 28/217; Fisher's exact test, P =.39).

Conclusion: Screening investigations added little to clinical follow-up. Indeed, routine clinical examination can easily identify complications that require treatment in adult patients with neurofibromatosis 1.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Catecholamines / analysis*
  • Cross-Sectional Studies
  • Diagnostic Imaging / methods
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Male
  • Mass Screening / methods*
  • Middle Aged
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / mortality
  • Neurofibromatosis 1 / therapy*
  • Risk Assessment
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Sex Distribution
  • Survival Rate

Substances

  • Catecholamines