Startseite Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
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Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy

  • Maria H. Lin , Nawaporn Numbenjapon , Emily L. Germain-Lee und Pisit Pitukcheewanont EMAIL logo
Veröffentlicht/Copyright: 18. April 2015
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 28 Heft 7-8

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.

Keywords: Albright hereditary osteodystrophy; progressive osseous heteroplasia; pseudohypoparathyroidism
Corresponding author: Pisit Pitukcheewanont, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA, Phone: +1-323-361-2500, Fax: +1-323-361-1350, E-mail:

Acknowledgments

Work by EG-L was funded by U.S. Food and Drug Administration Orphan Products Development Grants R01-FD-R-002568 and R01-FD-R-003409.

Conflict of interest disclosure: Authors M. Lin, N. Numbenjapon, E. Germain-Lee, and P. Pitukcheewanont declare that they have no conflict of interest.

Ethical standards: Details that might disclose the identity of patients included in the article were omitted.

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Received: 2014-10-17
Accepted: 2015-2-11
Published Online: 2015-4-18
Published in Print: 2015-7-1

©2015 by De Gruyter

Artikel in diesem Heft

  1. Frontmatter
  2. Highlight: Thyroid
  3. Thyroid disorders revisited
  4. Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
  5. Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
  6. Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
  7. Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
  8. Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
  9. Neonatal thyroid storm accompanied with severe anaemia
  10. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
  11. Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
  12. Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
  13. Papillary thyroid cancer and autoimmune polyglandular syndrome
  14. Review article
  15. Should radioiodine be the first-line treatment for paediatric Graves’ disease?
  16. Image in pediatric endrocrinology
  17. Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
  18. Original articles
  19. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
  20. Rickets and vitamin D deficiency in Alaska native children
  21. Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
  22. Parents’ experiences of having a baby with ambiguous genitalia
  23. Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
  24. Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
  25. Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
  26. Influence of the body weight on the onset and progression of puberty in boys
  27. Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
  28. Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
  29. Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
  30. Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
  31. Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
  32. Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
  33. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
  34. Patient reports
  35. 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
  36. A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
  37. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
  38. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
  39. Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
  40. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
  41. Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
  42. Donohue syndrome: a new case with a new complication
  43. Euprolactinemic galactorrhea secondary to domperidone treatment
  44. 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
  45. Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
  46. Short communication
  47. Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
https://doi.org/10.1515/jpem-2014-0435
Schlagwörter für diesen Artikel
Albright hereditary osteodystrophy; progressive osseous heteroplasia; pseudohypoparathyroidism

Artikel in diesem Heft

  1. Frontmatter
  2. Highlight: Thyroid
  3. Thyroid disorders revisited
  4. Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
  5. Prognostic factors in pediatric differentiated thyroid cancer patients with pulmonary metastases
  6. Reclassification of cytologically atypical thyroid nodules based on radiologic features in pediatric patients
  7. Evaluation of inflammatory and oxidative biomarkers in children with well-controlled congenital hypothyroidism
  8. Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
  9. Neonatal thyroid storm accompanied with severe anaemia
  10. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
  11. Subclinical hypothyroidism as a rare cofactor in chronic kidney disease (CKD) – related anemia
  12. Cytometric analysis of perforin expression in NK cells, CD8+, and CD4+ lymphocytes in children with autoimmune Hashimoto’s thyroiditis – a preliminary study
  13. Papillary thyroid cancer and autoimmune polyglandular syndrome
  14. Review article
  15. Should radioiodine be the first-line treatment for paediatric Graves’ disease?
  16. Image in pediatric endrocrinology
  17. Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease
  18. Original articles
  19. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
  20. Rickets and vitamin D deficiency in Alaska native children
  21. Persistent elevation of fibroblast growth factor 23 concentrations in healthy appropriate-for-gestational-age preterm infants
  22. Parents’ experiences of having a baby with ambiguous genitalia
  23. Effect of GnRHa 3.75 mg subcutaneously every 6 weeks on adult height in girls with idiopathic central precocious puberty
  24. Congenital adrenal hyperplasia in children – a survey on the current practice in the UK
  25. Randomized clinical trial evaluating metformin versus oral contraceptive pills in the treatment of adolescents with polycystic ovarian syndrome
  26. Influence of the body weight on the onset and progression of puberty in boys
  27. Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
  28. Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene
  29. Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds
  30. Monitoring gonadotropin-releasing hormone analogue (GnRHa) treatment in girls with central precocious puberty: a comparison of four methods
  31. Dietary intake, body composition, and physical activity among young patients with type 1 diabetes mellitus
  32. Metabolic syndrome in obese children and adolescents in Serbia: prevalence and risk factors
  33. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
  34. Patient reports
  35. 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
  36. A patient developing anaphylaxis and sensitivity to two different GnRH analogues and a review of literature
  37. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene
  38. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
  39. Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency
  40. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
  41. Successful use of continuous subcutaneous hydrocortisone infusion after bilateral adrenalectomy secondary to bilateral pheochromocytoma
  42. Donohue syndrome: a new case with a new complication
  43. Euprolactinemic galactorrhea secondary to domperidone treatment
  44. 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
  45. Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency
  46. Short communication
  47. Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
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