inherited ossifying diseases
Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
Types
Fibrodysplasia Ossificans Progressiva (FOP)
- FOP 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)
- HOP 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.
References
Job-Deslandre C. Inherited ossifying diseases. Joint Bone Spine. 2004 Mar;71(2):98-101. PMID: #15116703#