A longitudinal study of periungual fibroma size in adulthood and in response to sirolimus

Summary: Abstract Body: A hindrance to assessing changes in periungual fibroma (PF) size in response to therapy has been the lack of a simple method for measurement. PF often appear in adolescence as one of the last skin manifestations of tuberous sclerosis complex (TSC). PF result in nail distortion and may cause pain and bleeding. To assess the natural history of PF size and to determine whether PF size is influenced by treatment with oral sirolimus, we performed a retrospective cohort study analyzing clinical images to obtain ratios of PF area relative to total nail area. PF size was measured over time in 17 patients with TSC, ages 27 to 66 years. A total of 18 PF were from patients not on sirolimus, and 10 PF were from patients on sirolimus to treat lymphangioleiomyomatosis. ImageJ was used to quantify relative PF area at the final visit compared to first visit; defining ratios of 0.7 to 1.2 as similar size, <0.7 smaller size, and >1.2 larger size. Over a median of 3.4 years (range 1.3 to 8.5), 10 of 18 PF maintained a similar size, 5 increased an average of 1.6-fold, and 3 decreased an average of 0.7-fold. In patients treated with sirolimus for a median of 3.5 years (range 1 to 9), 7 of 10 PF maintained a similar size, 1 PF increased 1.3-fold, and 2 PF decreased an average 0.6-fold. In some instances, PF size in patients on sirolimus did not change in area but appeared to flatten. Overall, most PF in patients with TSC are fairly stable in size during adulthood and persist during treatment with oral sirolimus. Oral sirolimus, initiated for systemic indications, does not replace surgical excision of PF when needed for symptomatic lesions. Whether oral sirolimus minimizes recurrence after excision remains to be determined. Samantha Verling¹, Joel Moss¹, Thomas Darling² 1. Critical Care Medicine and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health Clinical Center, Bethesda, MD, United States. 2. Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, United States. Clinical Research: Epidemiology and Observational Research