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Inherited ossifying diseases.
Joint Bone Spine. 2004 Mar; 71(2):98-101.JB

Abstract

Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications. Fibrodysplasia Ossificans Progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or 17. Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS 1 gene leading to an inactivation of the alpha subunit of the G protein-complex. Some therapeutic approaches have been tried: angiogenesis inhibition, mast cell inhibition; others remained in project: BMP 4 inhibition; actually there is no proved efficacy of any of them.

Authors+Show Affiliations

Rheumatology A Department, Cochin Teaching Hospital, AP-HP Paris-V University, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France. chantal.deslandre@cch.ap-hop-paris.fr

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15116703

Citation

Job-Deslandre, Chantal. "Inherited Ossifying Diseases." Joint, Bone, Spine : Revue Du Rhumatisme, vol. 71, no. 2, 2004, pp. 98-101.
Job-Deslandre C. Inherited ossifying diseases. Joint Bone Spine. 2004;71(2):98-101.
Job-Deslandre, C. (2004). Inherited ossifying diseases. Joint, Bone, Spine : Revue Du Rhumatisme, 71(2), 98-101.
Job-Deslandre C. Inherited Ossifying Diseases. Joint Bone Spine. 2004;71(2):98-101. PubMed PMID: 15116703.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inherited ossifying diseases. A1 - Job-Deslandre,Chantal, PY - 2004/5/1/pubmed PY - 2004/7/23/medline PY - 2004/5/1/entrez SP - 98 EP - 101 JF - Joint, bone, spine : revue du rhumatisme JO - Joint Bone Spine VL - 71 IS - 2 N2 - Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications. Fibrodysplasia Ossificans Progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or 17. Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS 1 gene leading to an inactivation of the alpha subunit of the G protein-complex. Some therapeutic approaches have been tried: angiogenesis inhibition, mast cell inhibition; others remained in project: BMP 4 inhibition; actually there is no proved efficacy of any of them. SN - 1297-319X UR - https://www.unboundmedicine.com/medline/citation/15116703/Inherited_ossifying_diseases_ L2 - https://www.lens.org/lens/search?q=citation_id:15116703 DB - PRIME DP - Unbound Medicine ER -