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


CONCLUSIONS
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.
Drappier
Jean-Christophe
JC
Department of Dermatology, Henri-Mondor Hospital, AP-HP, Paris XII University, Créteil, France.
Khosrotehrani
Kiarash
K
Zeller
Jacques
J
Revuz
Jean
J
Wolkenstein
Pierre
P
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D002395:Catecholamines / Q000032:analysis*; D003430:Cross-Sectional Studies; D003952:Diagnostic Imaging / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy*; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D017678:Sex Distribution; D015996:Survival Rate
D002395:Catecholamines