Progressive osseous heteroplasia (POH) is a rare genetic disorder characterised by progressive heterotopic ossification (HO) within the skin and subcutaneous tissues. The condition is caused by heterozygous inactivating mutations of the GNAS gene and usually presents in infancy. We describe the case of a white male ex-preterm who was first referred because of subcutaneous calcium deposits along the right arm after extravasation of parenteral nutrition. As these lesions progressed, a skin biopsy was undertaken which revealed intramembranous ossification. Genetic testing revealed a constitutional, de novo, heterozygous, nonsense variant in the GNAS gene that has not previously been described, but which is consistent with patient's clinical diagnosis of POH. No endocrine abnormalities or other signs congruent with overlapping conditions were detected. To the best of our knowledge, this is the first case describing an inflammatory trigger in POH. Trials with intravenous bisphosphonate and glucocorticoid as well as with topical sodium thiosulphate were attempted without clinical improvement. Excision of the calcifications and physiotherapy seem to have provided a partial improvement on mobility of the elbow. This case widens the spectrum of phenotypes seen in GNAS mutation disorders and suggests that alternative anti-inflammatory treatments may be effective. Mutations in GNAS should be considered in cases of significant progressive calcium deposition after extravasation injury.

Progressive osseous heteroplasia: A case report with an unexpected trigger / Boncompagni, A.; Lucas-Herald, A. K.; Beattie, P.; Mcdevitt, H.; Iughetti, L.; Constantinou, P.; Kinning, E.; Ahmed, S. F.; Mason, A.. - In: BONE REPORTS. - ISSN 2352-1872. - 18:(2023), pp. 101665-101665. [10.1016/j.bonr.2023.101665]

Progressive osseous heteroplasia: A case report with an unexpected trigger

Boncompagni A.;Iughetti L.;
2023

Abstract

Progressive osseous heteroplasia (POH) is a rare genetic disorder characterised by progressive heterotopic ossification (HO) within the skin and subcutaneous tissues. The condition is caused by heterozygous inactivating mutations of the GNAS gene and usually presents in infancy. We describe the case of a white male ex-preterm who was first referred because of subcutaneous calcium deposits along the right arm after extravasation of parenteral nutrition. As these lesions progressed, a skin biopsy was undertaken which revealed intramembranous ossification. Genetic testing revealed a constitutional, de novo, heterozygous, nonsense variant in the GNAS gene that has not previously been described, but which is consistent with patient's clinical diagnosis of POH. No endocrine abnormalities or other signs congruent with overlapping conditions were detected. To the best of our knowledge, this is the first case describing an inflammatory trigger in POH. Trials with intravenous bisphosphonate and glucocorticoid as well as with topical sodium thiosulphate were attempted without clinical improvement. Excision of the calcifications and physiotherapy seem to have provided a partial improvement on mobility of the elbow. This case widens the spectrum of phenotypes seen in GNAS mutation disorders and suggests that alternative anti-inflammatory treatments may be effective. Mutations in GNAS should be considered in cases of significant progressive calcium deposition after extravasation injury.
2023
18
101665
101665
Progressive osseous heteroplasia: A case report with an unexpected trigger / Boncompagni, A.; Lucas-Herald, A. K.; Beattie, P.; Mcdevitt, H.; Iughetti, L.; Constantinou, P.; Kinning, E.; Ahmed, S. F.; Mason, A.. - In: BONE REPORTS. - ISSN 2352-1872. - 18:(2023), pp. 101665-101665. [10.1016/j.bonr.2023.101665]
Boncompagni, A.; Lucas-Herald, A. K.; Beattie, P.; Mcdevitt, H.; Iughetti, L.; Constantinou, P.; Kinning, E.; Ahmed, S. F.; Mason, A.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1314230
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