Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Progressive osseous heteroplasia

Progressive osseous heteroplasia is caused by inactivating mutations of the GNAS gene and characterized by intramembranous bone tissue. The skeleton invariably shows deformations too.

Historical Aspects

Progressive osseous heteroplasia was first described by Kaplan et al. in 1994.[Error: Macro 'ref' doesn't exist]

Clinical Findings

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.

Symptoms

Heterotopic Ossification
With progressive osseous heteroplasia ossification starts in childhood with superficial dermal ossification.

Systematic

Inherited human diseases of heterotopic bone formation
Fibrodysplasia ossificans progressiva
Hyperphosphatemic familial tumoral calcinosis
Progressive osseous heteroplasia
GNAS

References:

1.

Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.

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2.

Stoll C et al. () Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues.

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3.

Eddy MC et al. (2000) Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

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4.

Shore EM et al. (2002) Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

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5.

Faust RA et al. (2003) Progressive osseous heteroplasia in the face of a child.

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6.

Izraeli S et al. (1992) Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.

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7.

Adegbite NS et al. (2008) Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

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8.

Gardner RJ et al. (1988) Familial ectopic ossification.

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9.

Brook CG et al. (1971) Osteoma cutis and Albright's hereditary osteodystrophy.

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10.

MacLean GD et al. (1966) Connective tissue ossification presenting in the skin.

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11.

Fawcett HA et al. (1983) Hereditary osteoma cutis.

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12.

Rosenfeld SR et al. (1995) Progressive osseous heteroplasia in male patients. Two new case reports.

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13.

Athanasou NA et al. () Progressive osseous heteroplasia: a case report.

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14.

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.

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15.

Schmidt AH et al. (1994) Hemimelic progressive osseous heteroplasia. A case report.

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16.

Urtizberea JA et al. (1998) Progressive osseous heteroplasia. Report of a family.

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17.

OMIM.ORG article

Omim 166350 [^]
18.

Orphanet article

Orphanet ID 2762 [^]
19.

Wikipedia article

Wikipedia EN (Progressive_osseous_heteroplasia) [^]
Update: May 10, 2019