Fibrodysplasia ossificans progressiva: when a double skeleton is present.

Autor: Maduro, Ana Isabel, Mendes, Beatriz, Saraiva, André Pinto, Sousa, Marlene, Marques, Marta, B. Sousa, Sérgio, Salvador, Maria João, Malcata, Armando, Serra, Sara
Předmět:
Zdroj: Clinical Rheumatology; Nov2023, Vol. 42 Issue 11, p3173-3174, 2p
Abstrakt: The foot radiographs showed bilateral hypoplastic hallux (K) Discussion FOP is a rare (1:2,000,000) and disabling genetic disease characterized by progressive HO of soft connective tissues and congenital hallux malformations, caused by gain-of-function mutations in the I ACVR1 i gene [[1]]. The radiographs revealed generalized heterotopic ossification (full arrows), which involves the soft tissues of the spine (C, D), left arm (E), elbows (F, G), hip (I), thoracic region (J), and feet (K). A 57-year-old female patient was referred to the Rheumatology Department due to progressive stiffness and limited mobility of the cervical and lumbar spine, followed by the shoulder, elbow, and hip joints. [Extracted from the article]
Databáze: Complementary Index