Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva is a rare genetic disorder in which muscle and connective tissue progressively form bone, often alongside malformed great toes.

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Activin A: Activin A is a signaling protein involved in development, inflammation, and regulation of reproductive hormones. In fibrodysplasia ossificans progressiva, mutant ACVR1 can make Activin A trigger bone-forming signals.
Congenital malformation of the great toes: Congenital malformation of the great toes is an abnormality of toe shape or structure present at birth. Short, bent great toes are an early, distinctive clue to the disorder.
Radiography: Radiography uses X-rays to create images of internal structures, especially bones. Imaging can identify characteristic toe abnormalities and mature ectopic bone.
Guy Patin: Guy Patin was a seventeenth-century French physician whose writings described a patient with progressive ossification. His account is among the earliest known descriptions of the disorder.
Progressive osseous heteroplasia: Progressive osseous heteroplasia is a rare genetic disorder that causes bone to form progressively in skin and deeper tissues. It also causes progressive ectopic bone, but typically begins in the skin and has a different genetic cause.
Bone morphogenetic protein: Bone morphogenetic proteins are signaling molecules that regulate the formation of bone, cartilage, and other tissues. Abnormal signaling in this pathway helps explain why injured soft tissue forms bone.
Soft tissue: Soft tissue comprises non-bony tissues such as muscle, tendons, ligaments, fascia, and connective tissue. These tissues, rather than the skeleton alone, become sites of new bone formation.
Differential diagnosis: Differential diagnosis is the process of distinguishing a condition from other disorders with similar signs. Recognizing the toe findings helps prevent confusing early disease with tumors or other bone disorders.
Frederick Kaplan: Frederick Kaplan is an orthopedic surgeon and researcher known for studying fibrodysplasia ossificans progressiva. His clinical and research work helped establish modern understanding and care of the condition.
Myositis ossificans: Myositis ossificans is localized bone formation in muscle, often following injury. Unlike this systemic genetic disorder, it is usually confined to an injured area.