title: Neurofibromatosis type 1 in childhood: evaluation of clinical and epidemiologic features as predictive factors for severity.
abstract: The authors evaluated clinical and epidemiologic features of neurofibromatosis type 1 (NF-1) as predictive factors of severity of the disease. The data were retrieved from medical records of 110 children with NF-1 followed up during the period 1974-1991 (mean duration of follow-up 6.7 years). Presence of macrocephaly correlated with higher grade of severity of the disease (P = 0.018). Familial NF-1 was more common in patients with grade 4 disease than in children with grade 1 severity (P < 0.05; odds ratio 2.9, confidence limits 0.85-10.5). The specificity of positive family history and macrocephaly as predictive factors for the grade 4 disease was 90% and 89%, respectively, and sensitivity was 71% and 36%, correspondingly. Positive predictive value of familial NF-1 and macrocephaly was 24% and 31%, respectively. In conclusion, although patients with family history of NF-1 and with macrocephaly tend to have more severe disease, the clinical utility of these features as predictive factors for severity is limited.
authors.affiliation: Dermatology Unit, Schneider's Children Medical Center, Petah-Tiqva, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Zvulunov
authors.forename: R
authors.initials: R
authors.lastname: Weitz
authors.forename: A
authors.initials: A
authors.lastname: Metzker
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007557:Israel / Q000453:epidemiology; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D011237:Predictive Value of Tests; D012720:Severity of Illness Index; D012886:Skull / Q000002:abnormalities