PMC8260848_01
Chronogram depicting treatments received and evolution of the disease in the first twin. The graphic starts with levels of PINP and beta-crosslaps obtained in the 4 weeks prior to the beginning of the first intervention (administration of mecasermin or rhIGF-1, which corresponds to the beginning of month II). Levels of PINP and beta-crosslaps have been moving around the same values in the previous 12 months, where we began to measure them. After the failure of the corticosteroid therapy, parents and the medical team agreed to stop the fortnightly blood draws and to follow evolution based on clinical parameters, to reduce intervention and hospital visits, thus minimizing the interference with daily activities. PINP:amino-terminal propeptide of type I collagen.
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F1
Table 1 and Supplementary Figure 1. The order of the therapeutic choices was established weighing the existing evidence for treatment of ectopic ossification processes against the severity of possible side effects and the disruption caused in normal life activities (Figure 1; Supplementary Figure 3). A chronogram depicting the drugs administered to Patient 1 and their effects on the chosen serum markers can be found in Figure 1. Our novel IGF-1 therapeutic approach was based on its role as an equipoise of bone metabolism (Figure 1), it acts as a powerful regulator of osteoclastogenesis and the reabsorptive function of osteoclasts.
Tridimensional TC of the pelvis and lower limbs, showing the evolution of ectopic calcification in the right leg, as well as the progression of ankylosis, asymmetry, and tibial combing of the left leg.
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F2
Despite receiving indomethacin for the last 14 months, our patient presented two flare-up periods and recurrence of the bony plate under the surgical incision (Figure 2 and Supplementary Figure 4).
PMC8260848_02
Tridimensional TC of the pelvis and lower limbs, showing the evolution of ectopic calcification in the right leg, as well as the progression of ankylosis, asymmetry, and tibial combing of the left leg.
fped-09-662669-g0002.jpg
PMC8260848_02_fped-09-662669-g0002.jpg
F2
Despite receiving indomethacin for the last 14 months, our patient presented two flare-up periods and recurrence of the bony plate under the surgical incision (Figure 2 and Supplementary Figure 4).