ISSN 2052-1219 (online)

Bone Abstracts (2013) 2 P185 | DOI: 10.1530/boneabs.2.P185

An unusual presentation of progressive osseous heteroplasia in a 7-year-old female child

D E Schrander1, T J Welting1,2, J J P Schrander1, L W van Rhijn1,2, I Korver-Keularts1 & C T R M Schrander-Stumpel1

1Maastricht Universitair Medisch Centrum +, Maastricht, The Netherlands; 2CAPHRI School for Public Health and Primary Care, Maastricht, The Netherlands; 3GROW School for Oncology and Developmental Biology, Maastricht, The Netherlands.

Background: 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 (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).

Presenting problem: We present an unusual presentation of POH in a 7-year-old female child. The clinical features included a painful swelling on the left heel, 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 heel, thoracic spine and both 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_588del, previously found in AHO. Histopathological examination of the subcutaneous ossification showed presence of chondrocyte clusters, a feature usually found in FOP.

Discussion: 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 in order to create more awareness of this disorder so that unnecessary treatments can be avoided, and proper counseling offered.

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