Vitali Lounev, Jay C Groppe, Niambi Brewer, Kelly L Wentworth, Victoria Smith, Meiqi Xu, Lutz Schomburg, Pankaj Bhargava, Mona Al Mukaddam, Edward C Hsiao, Eileen M Shore, Robert J Pignolo, Frederick S Kaplan
Single case studies of extraordinary disease resilience may provide therapeutic insight into conditions for which no definitive treatments exist. An otherwise healthy 35-year-old man (patient-R) with the canonical pathogenic ACVR1R206H variant and the classic congenital great toe malformation of fibrodysplasia ossificans progressiva (FOP) had extreme paucity of post-natal heterotopic ossification (HO) and nearly normal mobility. We hypothesized that patient-R lacked a sufficient post-natal inflammatory trigger for HO...
February 16, 2024: Journal of Bone and Mineral Research