PSAT180 Fibrodysplasia Ossificans Progressiva (FOP) A Case Series

Case 1 (TTD 30yrs): 71-year-old female presented with decreased mobility over the past 15years. She had malformations of the great toes. She developed "golf ball" sized calcified lumps in the upper ribs, clavicle and sternum which began to form at the age of 32 and were removed surgically. Calcified soft tissue was noted over the shoulders, spine and thighs. No history of hearing impairment. Radiographs showed areas of abnormal bone growth. CT scan of abdomen showed calcifications within the gluteal and thigh muscles The lab profile was normal. DNA analysis in process.Case 2 (TTD 13yrs): A 53-year-old female with symmetric malformations of the great toes presented with a lump behind her knee in her 40's with histopathology consistent with calcium deposition. She was diagnosed initially with dermatomyositis and treated with steroids. No hearing impairment The lab profile and abdominal CT scan were unremarkable. DNA analysis in the process.Case 3: (TTD 25yrs) A 66 yr old female presented with multiple lesions of heterotopic ossification lesions which began at the age of 41 at sites of trauma in the right deltoid, right hip, right calf. These were surgically removed. Also had a malformation of the great toes bilaterally. Received radiation post excision of the calcified lesion in April 2021. A skeletal survey showed myositis ossificans. DNA analysis in the process. References 1. Pignolo, R.J., Shore, E.M., Kaplan, F.S., 2013 Pediatric Endocrinology Reviews 10902) 437-448. Fibrodysplasia Ossificans Progressiva: Diagnosis, Management and Therapeutic Horizons2. Therapeutic advances for blocking heterotopic ossification in fibrodysplasia ossificans progressiva.Wentworth KL, Masharani U, Hsiao EC.Br J Clin Pharmacol. 2019 Jun;85(6): 1180-1187. doi: 10.1111/bcp.13823. Epub 2019 Jan 6.3. Fibrodysplasia ossificans progressiva: lessons learned from a rare disease.Akyuz G, Gencer-Atalay K, Ata P.Curr Opin Pediatr. 2019 Dec;31(6): 716-722. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.