{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:53Z","timestamp":1789447433892,"version":"build-2803163510"},"reference-count":66,"publisher":"Walter de Gruyter GmbH","issue":"7-8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive osseous heteroplasia (POH) is a condition of invasive heterotopic ossification. Reports of patients with mild POH with Albright hereditary osteodystrophy (AHO), specifically pseudohypoparathyroidism type Ia (PHP Ia) with hormonal resistance, suggest the possibility of a common molecular basis.<\/jats:p><jats:p>A 4-year-old boy with obesity, speech delay, and expanding subcutaneous masses on buttock\/forearm. Physical exam revealed round facies and brachydactyly. Blood tests showed normal Ca, P, Mg, 25-OH vitamin D levels but elevated parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH). Abdominal computed tomography (CT) showed areas with calcifications in the subcutaneous tissue, fat, and muscle. Pathology of excised tissue revealed ossifications. Genomic study revealed no<\/jats:p><jats:p>A 3-year-old boy with painful ossifications in the left lower extremity. Lab tests were notable for elevated PTH and high-normal TSH. The CT-scan showed subcutaneous\/intramuscular calcifications. Genetic testing showed<\/jats:p><jats:p>A 9-year-old boy with knee pain and subcutaneous ossifications in back and upper\/lower extremity, causing significantly limited joint mobility. Lab tests were normal. The CT-scan showed areas corresponding to subcutaneous\/intramuscular ossifications throughout torso and extremities, consistent with POH. There was no<\/jats:p><jats:p>Patients with heterotopic ossifications present with a wide spectrum of disease. Although<\/jats:p>","DOI":"10.1515\/jpem-2014-0435","type":"journal-article","created":{"date-parts":[[2015,7,13]],"date-time":"2015-07-13T08:57:51Z","timestamp":1436777871000},"source":"Crossref","is-referenced-by-count":11,"title":["Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy"],"prefix":"10.1515","volume":"28","author":[{"given":"Maria H.","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawaporn","family":"Numbenjapon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily L.","family":"Germain-Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pisit","family":"Pitukcheewanont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref371","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1302\/0301-620X.80B5.0800768","article-title":"Progressive osseous heteroplasia Report of a family","author":"Urtizberea","year":"1998","journal-title":"J Bone Joint Surg Br"},{"key":"ref381","first-page":"123","article-title":"disruption of GNAS in chick embryos mimics progressive osseous heteroplasia","author":"Cairns","year":"2013","journal-title":"J Clin Invest"},{"key":"ref201","first-page":"146","article-title":"NS Diagnostic and mutational spectrum of progressive osseous heteroplasia and other forms of GNAS - based heterotopic ossification","author":"Adegbite","year":"2008","journal-title":"Am J Med Genet"},{"key":"ref621","first-page":"1","article-title":"Growth hormone deficiency in pseudohypoparathyroidism type a another manifestation of multihormone resistance","author":"Germain","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2106\/00004623-199403000-00013","article-title":"Progressive osseous heteroplasia : a distinct developmental disorder of heterotopic ossification Two new case reports and follow - up of three previously reported cases","author":"Kaplan","year":"1994","journal-title":"J Bone Joint Surg Am"},{"key":"ref191","first-page":"140","article-title":"Progressive osseous heteroplasia controlled by intravenous administration of pamidronate","author":"Hou","year":"2006","journal-title":"Am J Med Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1359\/jbmr.2000.15.11.2084","article-title":"EM Progressive osseous heteroplasia","volume":"15","author":"Kaplan","year":"2000","journal-title":"J Bone Miner Res"},{"key":"ref221","first-page":"1","article-title":"BE Bidirectional imprinting of a single gene encodes maternally paternally and biallelically derived proteins","author":"Hayward","year":"1998","journal-title":"Strain Proc Natl Acad Sci USA"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/0002-9343(83)91008-2","article-title":"Breslau NA Resistance to multiple hormones in patients with pseudohypoparathyroidism Association with deficient activity of guanine nucleotide regulatory protein","author":"Levine MA","year":"1983","journal-title":"AM Am J Med"},{"key":"ref41","first-page":"116","article-title":"EM ossification","volume":"12","author":"Kaplan","year":"2004","journal-title":"Am Acad"},{"key":"ref131","first-page":"1","article-title":"mutational analysis in pseudohypoparathyroidism","volume":"31","author":"Ahmed","year":"1998","journal-title":"Clin Endocrinol"},{"key":"ref51","first-page":"1","article-title":"de Paternally inherited inactivating mutations of the gene in progressive osseous heteroplasia","author":"Shore","year":"2002","journal-title":"Engl J Med"},{"key":"ref321","first-page":"21755","article-title":"ossifications in a mouse model of Albright hereditary osteodystrophy One","author":"Huso","year":"2011"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1359\/jbmr.2000.15.11.2074","article-title":"De Deficiency of the alpha - subunit of the stimulatory protein and severe extraskeletal ossification","volume":"15","author":"Eddy","year":"2000","journal-title":"J Bone Miner Res"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/0002-9343(83)91008-2","article-title":"Breslau NA Resistance to multiple hormones in patients with pseudohypoparathyroidism Association with deficient activity of guanine nucleotide regulatory protein","author":"Levine MA","year":"1983","journal-title":"AM Am J Med"},{"key":"ref631","first-page":"318","article-title":"stature obesity and growth hormone deficiency in pseudohypoparathyroidism type a","volume":"27","author":"Germain","year":"2006","journal-title":"Rev"},{"key":"ref301","first-page":"1","article-title":"mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon of the Gnas gene","author":"Germain","year":"2005","journal-title":"Endocrinology"},{"key":"ref511","first-page":"807","article-title":"Jan de Pseudohypoparathyroidism clinical biochemical molecular features In editor The parathyroids basic clinical concepts San CA Academic","volume":"25","author":"Beur","year":"2001"},{"key":"ref251","doi-asserted-by":"crossref","DOI":"10.1210\/jcem-63-6-1354","article-title":"AS Responses to glucagon infusion in pseudohypoparathyroidism","author":"Brickman","year":"1986","journal-title":"J Clin Endocrinol Metab"},{"key":"ref551","first-page":"140","article-title":"Progressive osseous heteroplasia controlled by intravenous administration of pamidronate","author":"Hou","year":"2006","journal-title":"Am J Med Genet"},{"key":"ref701","first-page":"196","article-title":"Physiological functions of the imprinted Gnas locus and its protein variants and in human and mouse","author":"Plagge","year":"2008","journal-title":"J Endocrinol"},{"key":"ref401","first-page":"116","article-title":"EM ossification","volume":"12","author":"Kaplan","year":"2004","journal-title":"Am Acad"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/ajmg.a.10170","article-title":"Progressive osseous heteroplasia in the face of a child","author":"Faust","year":"2003","journal-title":"Am J Med Genet"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1210\/jcem-62-3-497","article-title":"Activity of the stimulatory guanine nucleotide - binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism biochemical endocrine and genetic analysis of Albright s hereditary osteodystrophy in","author":"Levine MA","year":"1986","journal-title":"AM J Clin Endocrinol Metab"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0039-6257(85)90205-X","article-title":"syndrome spectrum of developmental disorders","volume":"29","author":"Shields","year":"1985","journal-title":"Surv Ophthalmol"},{"key":"ref681","first-page":"21755","article-title":"ossifications in a mouse model of Albright hereditary osteodystrophy One","author":"Huso","year":"2011"},{"key":"ref181","article-title":"Congenital plate - like osteoma cutis of the forehead : an atypical presentation form Craniomaxillofac","volume":"26","author":"Tresserra","year":"1998"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"4070","DOI":"10.1210\/jc.2002-022028","article-title":"Growth hormone - releasing hormone resistance in pseudohypoparathyroidism type new evidence for imprinting of the Gs alpha gene","author":"Mantovani","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.bone.2009.11.001","article-title":"- associated disorders of cutaneous ossification : two different clinical presentations","author":"Schimmel","year":"2010","journal-title":"Bone"},{"key":"ref351","first-page":"17","article-title":"Recurrent ectopic calcification involving the maxillofacial skeleton : a potential harbinger of osteodystrophy","volume":"21","author":"Cortes","year":"2006","journal-title":"J Craniofac Surg"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1302\/0301-620X.80B5.0800768","article-title":"Progressive osseous heteroplasia Report of a family","author":"Urtizberea","year":"1998","journal-title":"J Bone Joint Surg Br"},{"key":"ref21","first-page":"123","article-title":"disruption of GNAS in chick embryos mimics progressive osseous heteroplasia","author":"Cairns","year":"2013","journal-title":"J Clin Invest"},{"key":"ref151","first-page":"807","article-title":"Jan de Pseudohypoparathyroidism clinical biochemical molecular features In editor The parathyroids basic clinical concepts San CA Academic","volume":"25","author":"Beur","year":"2001"},{"key":"ref411","first-page":"1","article-title":"de Paternally inherited inactivating mutations of the gene in progressive osseous heteroplasia","author":"Shore","year":"2002","journal-title":"Engl J Med"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2106\/00004623-199403000-00013","article-title":"Progressive osseous heteroplasia : a distinct developmental disorder of heterotopic ossification Two new case reports and follow - up of three previously reported cases","author":"Kaplan","year":"1994","journal-title":"J Bone Joint Surg Am"},{"key":"ref311","first-page":"95","article-title":"Variable and tissue - specific hormone resistance in heterotrimeric Gs protein alpha - subunit knockout mice is due to tissue - specific imprinting of the gsalpha gene","volume":"20","author":"Yu","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.bone.2009.11.001","article-title":"- associated disorders of cutaneous ossification : two different clinical presentations","author":"Schimmel","year":"2010","journal-title":"Bone"},{"key":"ref521","first-page":"322","article-title":"Mutation in the gene encoding the stimulatory protein of adenylate cyclase in Albright s hereditary osteodystrophy","author":"Patten","year":"1990","journal-title":"Engl J Med"},{"key":"ref571","first-page":"95","article-title":"Progressive osseous heteroplasia : a model for the imprinting effects of GNAS inactivating mutations in humans","author":"Lebrun","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"ref341","first-page":"196","article-title":"Physiological functions of the imprinted Gnas locus and its protein variants and in human and mouse","author":"Plagge","year":"2008","journal-title":"J Endocrinol"},{"key":"ref61","first-page":"675","article-title":"manifestations of stimulatory protein alpha - subunit mutations and the role of genomic imprinting","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocrine Endocr Rev"},{"key":"ref291","first-page":"1","article-title":"Paternal imprinting of in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type a","author":"Germain","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"ref661","first-page":"1","article-title":"mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon of the Gnas gene","author":"Germain","year":"2005","journal-title":"Endocrinology"},{"key":"ref671","first-page":"95","article-title":"Variable and tissue - specific hormone resistance in heterotrimeric Gs protein alpha - subunit knockout mice is due to tissue - specific imprinting of the gsalpha gene","volume":"20","author":"Yu","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref651","first-page":"1","article-title":"Paternal imprinting of in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type a","author":"Germain","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"ref491","first-page":"1","article-title":"mutational analysis in pseudohypoparathyroidism","volume":"31","author":"Ahmed","year":"1998","journal-title":"Clin Endocrinol"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/ajmg.a.10170","article-title":"Progressive osseous heteroplasia in the face of a child","author":"Faust","year":"2003","journal-title":"Am J Med Genet"},{"key":"ref541","article-title":"Congenital plate - like osteoma cutis of the forehead : an atypical presentation form Craniomaxillofac","volume":"26","author":"Tresserra","year":"1998"},{"key":"ref581","first-page":"1","article-title":"BE Bidirectional imprinting of a single gene encodes maternally paternally and biallelically derived proteins","author":"Hayward","year":"1998","journal-title":"Strain Proc Natl Acad Sci USA"},{"key":"ref561","first-page":"146","article-title":"NS Diagnostic and mutational spectrum of progressive osseous heteroplasia and other forms of GNAS - based heterotopic ossification","author":"Adegbite","year":"2008","journal-title":"Am J Med Genet"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1359\/jbmr.2000.15.11.2063","article-title":"mutation misexpression in a child with severe congenital platelike osteoma cutis","volume":"15","author":"Yeh","year":"2000","journal-title":"J Bone Miner Res"},{"key":"ref421","first-page":"675","article-title":"manifestations of stimulatory protein alpha - subunit mutations and the role of genomic imprinting","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocrine Endocr Rev"},{"key":"ref161","first-page":"322","article-title":"Mutation in the gene encoding the stimulatory protein of adenylate cyclase in Albright s hereditary osteodystrophy","author":"Patten","year":"1990","journal-title":"Engl J Med"},{"key":"ref711","first-page":"17","article-title":"Recurrent ectopic calcification involving the maxillofacial skeleton : a potential harbinger of osteodystrophy","volume":"21","author":"Cortes","year":"2006","journal-title":"J Craniofac Surg"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1210\/jcem-62-3-497","article-title":"Activity of the stimulatory guanine nucleotide - binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism biochemical endocrine and genetic analysis of Albright s hereditary osteodystrophy in","author":"Levine MA","year":"1986","journal-title":"AM J Clin Endocrinol Metab"},{"key":"ref611","doi-asserted-by":"crossref","DOI":"10.1210\/jcem-63-6-1354","article-title":"AS Responses to glucagon infusion in pseudohypoparathyroidism","author":"Brickman","year":"1986","journal-title":"J Clin Endocrinol Metab"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1359\/jbmr.2000.15.11.2063","article-title":"mutation misexpression in a child with severe congenital platelike osteoma cutis","volume":"15","author":"Yeh","year":"2000","journal-title":"J Bone Miner Res"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0039-6257(85)90205-X","article-title":"syndrome spectrum of developmental disorders","volume":"29","author":"Shields","year":"1985","journal-title":"Surv Ophthalmol"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1359\/jbmr.2000.15.11.2074","article-title":"De Deficiency of the alpha - subunit of the stimulatory protein and severe extraskeletal ossification","volume":"15","author":"Eddy","year":"2000","journal-title":"J Bone Miner Res"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1002\/jbmr.481","article-title":"Heterozygous inactivation of Gnas in adipose - derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification","volume":"26","author":"Pignolo","year":"2011","journal-title":"J Bone Miner Res"},{"key":"ref691","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1002\/jbmr.481","article-title":"Heterozygous inactivation of Gnas in adipose - derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification","volume":"26","author":"Pignolo","year":"2011","journal-title":"J Bone Miner Res"},{"key":"ref271","first-page":"318","article-title":"stature obesity and growth hormone deficiency in pseudohypoparathyroidism type a","volume":"27","author":"Germain","year":"2006","journal-title":"Rev"},{"key":"ref641","doi-asserted-by":"crossref","first-page":"4070","DOI":"10.1210\/jc.2002-022028","article-title":"Growth hormone - releasing hormone resistance in pseudohypoparathyroidism type new evidence for imprinting of the Gs alpha gene","author":"Mantovani","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"ref211","first-page":"95","article-title":"Progressive osseous heteroplasia : a model for the imprinting effects of GNAS inactivating mutations in humans","author":"Lebrun","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1359\/jbmr.2000.15.11.2084","article-title":"EM Progressive osseous heteroplasia","volume":"15","author":"Kaplan","year":"2000","journal-title":"J Bone Miner Res"},{"key":"ref261","first-page":"1","article-title":"Growth hormone deficiency in pseudohypoparathyroidism type a another manifestation of multihormone resistance","author":"Germain","year":"2003","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0435\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:38:30Z","timestamp":1619055510000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0435\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":66,"journal-issue":{"issue":"7-8"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0435","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}