Progressive osseous heteroplasia: A case report

Athanasou, Nick; Benson, MK; Brenton, D. P.; Smith, Roger

doi:10.1016/8756-3282(94)90269-0

Cited by 28 publications

(33 citation statements)

References 9 publications

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“…1,12,13 Lesions can progress to extensive coalescing ossified plaques. The degree of associated morbidity depends on location and extent of heterotopic ossification and, in some cases, the condition can be debilitating.…”

Section: Reportmentioning

confidence: 99%

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

et al. 2004

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Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal ossification and may progress deeper to involve subcutaneous fat and connective tissue. Recently, paternally inherited inactivating mutations in the GNAS1 gene on chromosome 20q13 have been implicated in the pathogenesis, although sporadic cases have also been reported. We report a 9-year-old British Chinese girl with progressive osseous heteroplasia resulting from a de novo missense mutation (W281R) in the GNAS1 gene. She is of small stature (0.4th centile) and started to develop skin lesions at the age of 9 months. These have been confirmed histologically as osteoma cutis. She is of normal intelligence and development and has no dysmorphic features. The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800). With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.

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Section: Reportmentioning

confidence: 99%

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

et al. 2004

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“…Skin involvement is usually manifested as patches of small papules that predate ossified papules and nodules (10). The syndrome may be unilateral (1,10,13). The syndrome may be unilateral (1,10,13).…”

Section: Case Reportmentioning

confidence: 99%

Progressive Osseous Heteroplasia. A Case Report and Review of the Literature

Aynacı¹,

F²,

Çobanoğlu³

et al. 2002

Journal of Pediatric Orthopaedics, Part B

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Progressive osseous heteroplasia is a rare childhood disorder that is characterized by ectopic progressive ossification of skin, muscle, and connective tissue. We report a 5 year-old female patient with familial transmission. She developed cutaneous calcifications and ossifications within the first 2 months of life. Her father and father's aunt had subcutaneous nodules. At the age of 5 years, physical examination of the patient revealed ossified subcutaneous nodules and plaques on both upper limbs, the right side was predominantly affected. All the joints of the upper limbs were ankylosed except the left shoulder. Biopsy specimens of the patient and her father revealed islands of bone in the reticular dermis and deep dermis, respectively. We suggest that all family members of progressive osseous heteroplasia patients are carefully investigated for ossified nodules because of autosomal dominant inheritance.

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“…Medical management consists mainly of use of steroids [2] and immunosuppressive drugs. Azathioprine [3], cyclophosphamide [3], methotrexate [4] and ciclosporin [5] have been used successfully for disease control associated with regression of the periaortic mass. We report a patient with RPF (idiopathic type) who was treated with steroids, methotrexate and cyclophosphamide but disease control was eventually achieved with mycophenolate mofetil (MMF).…”

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confidence: 99%