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Endochondral ossification in a case of progressive osseous heteroplasia in a young female child.
J Pediatr Orthop B 2014; 23(5):477-84JP

Abstract

Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat, and deep connective tissue. This condition is distinct from Albright's hereditary osteodystrophy or McCune Albright syndrome (OMIM 103580) and fibrodysplasia ossificans progressiva (OMIM 135100). We present an unusual presentation of POH in a 7-year-old female child. The clinical features included a painful swelling on the left foot, with mechanical complaints. There was no congenital hallux valgus. Family anamnesis was positive in the father. There were subcutaneous ossifications of his left upper arm, right-sided thorax, and lateral side of the right ankle. The father did not allow any radiographs or further examinations. Radiographic examination of the patient revealed ossified subcutaneous plaques on the left foot, lumbar spine, and left scapulae. Additional blood samples were analyzed, revealing no pseudohypoparathyroidism. Sequence analysis of the gene associated with POH, the GNAS1 gene, revealed the heterozygote mutation c.565_568del, previously found in Albright's hereditary osteodystrophy. Histopathological examination of the subcutaneous ossification showed presence of chondrocyte clusters, a feature usually found in fibrodysplasia ossificans progressiva. The combination of the clinical features, the absence of pseudohypoparathyroidism, histology revealing chondrocyte clusters, and the specific GNAS mutation in this patient makes this a truly unusual presentation of POH. The findings in the described case might denote subdivisions of POH. The condition is associated with progressive superficial to deep ossification, progressive restriction of range of motion, and recurrence if excised. We hope to inform pediatricians and orthopedic surgeons to create more awareness of this disorder so that unnecessary treatments can be avoided and proper counseling offered.

Authors+Show Affiliations

Departments of aOrthopedics bPediatrics cClinical Genetics, Maastricht Universitair Medisch Centrum+, Maastricht University dGROW School for Oncology and Developmental Biology, Maastricht University eCAPHRI School for Public Health and Primary Care, Maastricht University Medical Center, Maastricht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24626099

Citation

Schrander, Dirk E., et al. "Endochondral Ossification in a Case of Progressive Osseous Heteroplasia in a Young Female Child." Journal of Pediatric Orthopedics. Part B, vol. 23, no. 5, 2014, pp. 477-84.
Schrander DE, Welting TJ, Caron MM, et al. Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. J Pediatr Orthop B. 2014;23(5):477-84.
Schrander, D. E., Welting, T. J., Caron, M. M., Schrander, J. J., van Rhijn, L. W., Körver-Keularts, I., & Schrander-Stumpel, C. T. (2014). Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. Journal of Pediatric Orthopedics. Part B, 23(5), pp. 477-84. doi:10.1097/BPB.0000000000000045.
Schrander DE, et al. Endochondral Ossification in a Case of Progressive Osseous Heteroplasia in a Young Female Child. J Pediatr Orthop B. 2014;23(5):477-84. PubMed PMID: 24626099.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. AU - Schrander,Dirk E, AU - Welting,Tim J, AU - Caron,Marjolein M J, AU - Schrander,Jaap J P, AU - van Rhijn,Lodewijk W, AU - Körver-Keularts,Inge, AU - Schrander-Stumpel,Constance T R M, PY - 2014/3/15/entrez PY - 2014/3/15/pubmed PY - 2015/4/23/medline SP - 477 EP - 84 JF - Journal of pediatric orthopedics. Part B JO - J Pediatr Orthop B VL - 23 IS - 5 N2 - Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat, and deep connective tissue. This condition is distinct from Albright's hereditary osteodystrophy or McCune Albright syndrome (OMIM 103580) and fibrodysplasia ossificans progressiva (OMIM 135100). We present an unusual presentation of POH in a 7-year-old female child. The clinical features included a painful swelling on the left foot, with mechanical complaints. There was no congenital hallux valgus. Family anamnesis was positive in the father. There were subcutaneous ossifications of his left upper arm, right-sided thorax, and lateral side of the right ankle. The father did not allow any radiographs or further examinations. Radiographic examination of the patient revealed ossified subcutaneous plaques on the left foot, lumbar spine, and left scapulae. Additional blood samples were analyzed, revealing no pseudohypoparathyroidism. Sequence analysis of the gene associated with POH, the GNAS1 gene, revealed the heterozygote mutation c.565_568del, previously found in Albright's hereditary osteodystrophy. Histopathological examination of the subcutaneous ossification showed presence of chondrocyte clusters, a feature usually found in fibrodysplasia ossificans progressiva. The combination of the clinical features, the absence of pseudohypoparathyroidism, histology revealing chondrocyte clusters, and the specific GNAS mutation in this patient makes this a truly unusual presentation of POH. The findings in the described case might denote subdivisions of POH. The condition is associated with progressive superficial to deep ossification, progressive restriction of range of motion, and recurrence if excised. We hope to inform pediatricians and orthopedic surgeons to create more awareness of this disorder so that unnecessary treatments can be avoided and proper counseling offered. SN - 1473-5865 UR - https://www.unboundmedicine.com/medline/citation/24626099/Endochondral_ossification_in_a_case_of_progressive_osseous_heteroplasia_in_a_young_female_child_ L2 - http://Insights.ovid.com/pubmed?pmid=24626099 DB - PRIME DP - Unbound Medicine ER -