Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Progressive osseous heteroplasia is caused by inactivating mutations of the GNAS gene and characterized by intramembranous bone tissue. The skeleton invariably shows deformations too.
Progressive osseous heteroplasia was first described by Kaplan et al. in 1994.[Error: Macro 'ref' doesn't exist]
Progressive osseous heteroplasia (POH) presents in early childhood with cutaneous ossifications. With disease progression, subcutaneous and deep connective tissues, including muscle and fascia, is involved.
| Heterotopic Ossification | |
 |
With progressive osseous heteroplasia ossification starts in childhood with superficial dermal ossification. |
Inherited human diseases of heterotopic bone formation
|
||||
|
Familial tumoral calcinosis
|
|||
|
|
Fibrodysplasia ossificans progressiva
|
|||
|
Progressive osseous heteroplasia
|
|||
|
|
|
GNAS
|
||
|
|
|
|
|
| 1. |
Stoll C et al. () Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues. 
|
| 2. |
Urtizberea JA et al. (1998) Progressive osseous heteroplasia. Report of a family.
|
| 3. |
Schmidt AH et al. (1994) Hemimelic progressive osseous heteroplasia. A case report.
|
| 4. |
Kaplan FS et al. (1994) Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases.
|
| 5. |
Athanasou NA et al. () Progressive osseous heteroplasia: a case report.
|
| 6. |
Rosenfeld SR et al. (1995) Progressive osseous heteroplasia in male patients. Two new case reports.
|
| 7. |
Fawcett HA et al. (1983) Hereditary osteoma cutis.
|
| 8. |
MacLean GD et al. (1966) Connective tissue ossification presenting in the skin.
|
| 9. |
Brook CG et al. (1971) Osteoma cutis and Albright's hereditary osteodystrophy.
|
| 10. |
Gardner RJ et al. (1988) Familial ectopic ossification.
|
| 11. |
Adegbite NS et al. (2008) Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
|
| 12. |
Izraeli S et al. (1992) Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.
|
| 13. |
Faust RA et al. (2003) Progressive osseous heteroplasia in the face of a child.
|
| 14. |
Shore EM et al. (2002) Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
|
| 15. |
Eddy MC et al. (2000) Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
|
| 16. |
Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.
|
| 17. |
OMIM.ORG article Omim 166350
|
| 18. |
Orphanet article Orphanet ID 2762
|
| 19. |
Wikipedia article Wikipedia EN (Progressive_osseous_heteroplasia)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |