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Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
J Pediatr Endocrinol Metab 2015; 28(7-8):911-8JP

Abstract

INTRODUCTION

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. GNAS has been implicated to account for overlapping features of POH and PHP Ia. Case 1: 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 GNAS mutation. He had POH and PHP Ia. Case 2: 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 GNAS mutation in exon 12 [c.1024C>T (R342X)]. Patient had POH and PHP Ia. Case 3: 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 GNAS mutation.

CONCLUSIONS

Patients with heterotopic ossifications present with a wide spectrum of disease. Although GNAS-based mutations have been postulated to account for overlapping features of AHO and POH, normal DNA studies in certain patients with POH/AHO suggest that there may exist other molecular/epigenetic mechanisms explaining their overlapping features.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

25894639

Citation

Lin, Maria H., et al. "Progressive Osseous Heteroplasia, as an Isolated Entity or Overlapping With Albright Hereditary Osteodystrophy." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 28, no. 7-8, 2015, pp. 911-8.
Lin MH, Numbenjapon N, Germain-Lee EL, et al. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. J Pediatr Endocrinol Metab. 2015;28(7-8):911-8.
Lin, M. H., Numbenjapon, N., Germain-Lee, E. L., & Pitukcheewanont, P. (2015). Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. Journal of Pediatric Endocrinology & Metabolism : JPEM, 28(7-8), pp. 911-8. doi:10.1515/jpem-2014-0435.
Lin MH, et al. Progressive Osseous Heteroplasia, as an Isolated Entity or Overlapping With Albright Hereditary Osteodystrophy. J Pediatr Endocrinol Metab. 2015;28(7-8):911-8. PubMed PMID: 25894639.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. AU - Lin,Maria H, AU - Numbenjapon,Nawaporn, AU - Germain-Lee,Emily L, AU - Pitukcheewanont,Pisit, PY - 2014/10/17/received PY - 2015/02/11/accepted PY - 2015/4/21/entrez PY - 2015/4/22/pubmed PY - 2016/4/15/medline SP - 911 EP - 8 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 28 IS - 7-8 N2 - INTRODUCTION: 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. GNAS has been implicated to account for overlapping features of POH and PHP Ia. Case 1: 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 GNAS mutation. He had POH and PHP Ia. Case 2: 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 GNAS mutation in exon 12 [c.1024C>T (R342X)]. Patient had POH and PHP Ia. Case 3: 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 GNAS mutation. CONCLUSIONS: Patients with heterotopic ossifications present with a wide spectrum of disease. Although GNAS-based mutations have been postulated to account for overlapping features of AHO and POH, normal DNA studies in certain patients with POH/AHO suggest that there may exist other molecular/epigenetic mechanisms explaining their overlapping features. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/25894639/Progressive_osseous_heteroplasia_as_an_isolated_entity_or_overlapping_with_Albright_hereditary_osteodystrophy_ L2 - https://www.degruyter.com/doi/10.1515/jpem-2014-0435 DB - PRIME DP - Unbound Medicine ER -