Progressive osseous heteroplasia
Última actualización 18 Aug 2020
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Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility.
Descripción
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility.
Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Cutaneous ossification
Ectopic ossification
Heterotopic ossification
Myositis ossificans progressiva
Osteodermia
Osteoma cutis
Osteosis cutis
POH
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Lecturas adicionales y referencias
- Progressive osseous heteroplasia; MedlinePlus, National Library of Medicine.
- Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346.
- Aynaci O, Mujgan Aynaci F, Cobanoglu U, Alpay K. Progressive osseous heteroplasia. A case report and review of the literature. J Pediatr Orthop B. 2002 Oct;11(4):339-42.
- Chan I, Hamada T, Hardman C, McGrath JA, Child FJ. Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. Clin Exp Dermatol. 2004 Jan;29(1):77-80. doi: 10.1111/j.1365-2230.2004.01439.x.
- Pignolo RJ, Ramaswamy G, Fong JT, Shore EM, Kaplan FS. Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. Appl Clin Genet. 2015 Jan 30;8:37-48. doi: 10.2147/TACG.S51064. eCollection 2015.
- Plagge A, Kelsey G, Germain-Lee EL. Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol. 2008 Feb;196(2):193-214. doi: 10.1677/JOE-07-0544.
- Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan 10;346(2):99-106. doi: 10.1056/NEJMoa011262.
- Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol. 2010 Sep;6(9):518-27. doi: 10.1038/nrrheum.2010.122. Epub 2010 Aug 10.
- Weinstein LS, Chen M, Liu J. Gs(alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci. 2002 Jun;968:173-97. doi: 10.1111/j.1749-6632.2002.tb04335.x.
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