Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The radiological criteria of juvenile, rheumatic, cervical synostosis discovered in adult life are described and illustrated. These include: involvement of few or many segments, a tendency to bony ankylosis of the diseased intervertebral joints, dysplasias or hypoplasia of the vertebral body and intervertebral disc and dysplasias of the neural arches and hypoplasia of the transverse processes. Pathological ossification may involve the ligamentum flavum, the annulus, or the entire disc. The differential diagnosis of juvenile, rheumatic, cervical synostosis includes congenital block vertebrae, Klippel-Feil syndrome, acquired block vertebrae, juvenile ankylosing spondylitis, synostosing, intervertebral osteochondrosis and myositis ossificans progressiva.
 ...
PMID:[The radiogical criteria of juvenile rheumatic cerivical synostosis in adults (author's transl)]. 14 15

Myositis ossificans progressiva is a rare disorder of young adults characterized by ossification of the connective tissue of the voluntary muscles and ligaments. Although it is trauma-related, up to 40-60% of these patients have no history of previous injury. A young female with marked kyphosis and ankylosis of the spine presented with a recent onset of a rapidly growing painful mass over the anterior aspect of her left shoulder. She received an excisional biopsy but recurrent ossification developed soon after. It then spread to the biceps muscle with subsequent contracture deformities of the shoulder and elbow joints. A plain radiogram of her spine revealed similar characteristics of ankylosing spondylitis. However, the final diagnosis was made by the pathognomonic ectopic ossification of muscles and para-articular soft tissue. Despite poor response of the established constracture, the painful mass did respond well to prednisolone treatment within 2 months, in terms of size and consistency.
 ...
PMID:Myositis ossificans progressiva mimicking ankylosing spondylitis: a case report. 132 Sep 97

Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary connective tissue disorder. Patients with FOP develop progressive ossification of muscle and connective tissue associated with pain and disability. Onset is typically in childhood, and congenital anomalies of the feet are an early sign of this condition. Pain and stiffness of the spine or an inflammatory mass are common presenting features of FOP. Involvement of the spine often leads to complete fusion mimicking ankylosing spondylitis. Studies of twins and families suggest that FOP is a genetically inherited autosomal dominant trait with complete penetrance but variable expressivity. While radionuclide imaging and computed tomography are very sensitive for new bone formation and greatly assist the diagnosis of FOP, unfortunately, effective therapy is unavailable. We present twins with FOP and review the clinical, radiographic, and genetic manifestations of this disorder.
 ...
PMID:Fibrodysplasia (myositis) ossificans progressiva. 789 73

Fibrodysplasia ossificans progressiva is a rare heritable disorder of connective tissue characterized by skeletal malformations and by progressive heterotopic ossification. It has been suggested that the genetic marker human leukocyte antigen B27 may be associated with fibrodysplasia ossificans progressiva, as it is with ankylosing spondylitis, another disorder with less severe hyperostosis. Genomic deoxyribonucleic acid from 23 classically affected patients with fibrodysplasia ossificans progressiva was screened for the human leukocyte antigen B27 allele by polymerase chain reaction. Only two of the 23 patients (9%) with fibrodysplasia ossificans progressiva who were examined showed the presence of the human leukocyte antigen B27 allele, an incidence that corresponds to the 8% frequency of individuals within the general population not affected with ankylosing spondylitis. These data suggest that the human leukocyte antigen B27 allele does not occur more commonly in the genotype of patients with fibrodysplasia ossificans progressiva than in the general population, and that the pathogenesis of heterotopic bone in fibrodysplasia ossificans progressiva differs from that of ankylosing spondylitis and other human leukocyte antigen B27 positive disorders.
 ...
PMID:Human leukocyte antigen B27 allele is not correlated with fibrodysplasia ossificans progressiva. 957 12