UNLABELLED: A strong relationship between congenital pseudarthrosis of the tibia (CPT) and neurofibromatosis type 1 (NF1) has been suggested, but prevalence varies widely throughout the literature and the criteria used for diagnosis are very heterogeneous. Literature focus is mainly on treatment and no specific review on the prevalence of NF1 has been published. Based on our own observations, we hypothesized the prevalence of NF1 in patients with CPT to be higher than what is previously accepted. We conducted a comprehensive literature review on this topic and compared results with our study population. Twenty-one out of twenty-five patients in the study population matched the NIH diagnostic criteria for NF1 (84.0 %, CI95 = 69.6-98.4 %). These results are higher than the prevalence reported in the literature (55.4 %, CI95 = 50.4-60.4 %).
CONCLUSIONS: The prevalence of NF1 in patients with CPT might be higher than what is reported until now because the criteria of NF1 generally appear only after the diagnosis of CPT. We propose a repeat meticulous examination and a multidisciplinary approach with a clinical genetic counseling in all CPT patients.
WHAT IS KNOWN: • Congenital pseudarthrosis of the tibia and neurofibromatosis type 1 are closely related. • Literature focus is mainly on treatment and little epidemiologic research is available. What is New: • Prevalence of neurofibromatosis type 1 in patient with congenital pseudarthrosis of the tibia might be higher than what is reported until now. • A multidisciplinary approach with meticulous clinical examination and genetic counseling might lead to an earlier diagnosis of neurofibromatosis type 1 in patients with congenital pseudarthrosis of the tibia.