Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare but extremely disabling genetic disease of the skeletal system. This disease is characterized by progression of heterotopic ossification within skeletal muscles, ligaments and tendons. Most patients with FOP are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures such as biopsy that can cause lifelong disability. Almost all of the patients have some peculiar congenital anomalies, including short great toes, hallux valgus, short thumbs and hypoplasia of digital phalanges. These congenital defects support the diagnosis of FOP, but are not constantly observed in the totality of patients. If necessary, genetic studies can be performed to confirm the diagnosis. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations. Here, we describe a patient with FOP without characteristic congenital skeletal anomalies.

Fibrodysplasia Ossificans Progressiva-related Activated Activin-like Kinase Signaling Enhances Osteoclast Formation during Heterotopic Ossification in Muscle Tissues

“…Moreover, osteoclast formation in Raw264.7 cells was further increased in a co-culture with ALK2 (R206H)-transfected myoblasts in the this study. These findings suggest that the constitutive activation of BMP signaling by ALK2 (R206H) in myoblasts may be Several case studies showed that bisphosphonates are effective for the treatment of FOP (19,20). Moreover, we previously encountered in a patient with FOP higher levels of a bone resorption marker (36).…”

“…Several case studies have suggested that bisphosphonates may effectively treat FOP (19,20). These findings indicate that osteoclasts may regulate pathological ossification in FOP.…”

Is fibrodysplasia ossificans progressiva ever seen without skeletal abnormalities?

“…We read with interest the case report published by Hasan Ulusoy [1] discussing a 29-year-old man who, over a protracted duration of years, suffered repeated attacks of painful swellings over the body. As reported by the author, these swellings progressed to induration at the site of pain restricting the patient's mobility.…”

Genetic abnormalities in Fibrodysplasia Ossificans Progressiva

“…Genetic studies could be performed as a potent diagnostic way. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations (Kaplan et al, 1993;Ulusoy, 2012). It was found that incorrect diagnoses were given initially to 87% of individuals with FOP.…”