Creating a comprehensive research strategy for cutaneous neurofibromas

Abstract

Considerations and key questions for each of the thematic areas were identified and provided basis for a request for applications launched by NTAP focused on cNF and are described in the accompanying articles of this supplement.

Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry

“…Our prevalence findings are largely consistent with those from prior studies ( 10 – 22 ) and validate results from the earlier smaller cohorts. Our cohort has a higher prevalence of scoliosis, possibly because our cohort had an older average age, whereas other studies included pediatric populations, in whom scoliosis was less common.…”

Characterization of health concerns in people with neurofibromatosis type 1

“…There are currently no established guidelines for the treatment of itch in NF1, exemplifying an area of need in NF1 that has yet to be addressed. The patterns of onset and triggers of itch identified in our study, where one third of patients found itch started with development of new neurofibromas, followed by secondary generalizations of interest in understanding both the natural history of NF1 and the pathophysiology of itch (Blakeley et al, 2018; Ortonne et al, 2018).…”

Clinical assessment of the use of topical liquid diclofenac following laser microporation of cutaneous neurofibromas in individuals with neurofibromatosis type 1

“…neurofibromas (66.7% of neurofibromas with reductions on X-axis and 50% with reduction on the Y-axis), there were few treated neurofibromas with statistically significant changes in the size. Measurement of neurofibromas is a challenge in clinical assessments of treatments for cNF in NF1 as it may be subject to considerable inter-observer variability [9,31,32]. The size of a cNF may be indicative of a clinically significant result for therapeutic success evaluations, however even the use of the caliper, which was considered a reliable method in a recent study of natural history [33], has limitations in the measurement of small or flat tumors and does not evaluate the non-visible portions of the neurofibroma [32].…”