According to the Progressive Osseous Heteroplasia Association:
Progressive Osseous Heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendons, and ligaments. This ”out of place extra bone formation” is commonly referred to as heterotopic ossification. In people with POH, nodules and lace-like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues, and may cross joints. Extra bone formation near the joints may lead to stiffness, locking, and permanent immobility.”[2]
Patients with POH have a distinctly different manifestation of symptoms than those with fibrodysplasia ossificans progressiva (FOP), though heterotopic ossification appears in both diseases. They lack the congenital abnormality of the big toe that is a diagnostic feature for FOP. People with POH also have ossification of the skin during infancy, which does not occur in FOP. Also, the pattern of ossification differs in POH, spreading in an intramembranous fashion rather than endochondral.[6]
^Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ (July 2008). "Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification". Am. J. Med. Genet. A. 146A (14): 1788–96. doi:10.1002/ajmg.a.32346. PMC2564798. PMID 18553568.
^Kaplan, F. S.; Craver, R.; MacEwen, G. D.; Gannon, F. H.; Finkel, G.; Hahn, G.; Tabas, J.; Gardner, R. J.; Zasloff, M. A. (1994). "Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases". Journal of Bone and Joint Surgery. 76 (3): 425–436. doi:10.2106/00004623-199403000-00013. PMID 8126048.
^Kaplan, Frederick S.; Shore, Eileen M. (2000). "Progressive Osseous Heteroplasia". Journal of Bone and Mineral Research. 15 (11): 2084–2094. doi:10.1359/jbmr.2000.15.11.2084. PMID 11092391. S2CID 21642426.
External linksedit
Ansede, Manuel (2023-07-18). "The enigma of the girl who turns into bone while her identical twin remains healthy". El País.
January 01, 1970
progressive, osseous, heteroplasia, cutaneous, condition, characterized, cutaneous, subcutaneous, ossification, specialtydermatology, according, progressive, osseous, heteroplasia, association, progressive, osseous, heteroplasia, rare, genetic, condition, whic. Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification 1 Progressive osseous heteroplasiaSpecialtyDermatology According to the Progressive Osseous Heteroplasia Association Progressive Osseous Heteroplasia POH is a rare genetic condition in which the body makes extra bone in locations where bone should not form Extra bone develops inside skin subcutaneous tissue fat tissue beneath the skin muscles tendons and ligaments This out of place extra bone formation is commonly referred to as heterotopic ossification In people with POH nodules and lace like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues and may cross joints Extra bone formation near the joints may lead to stiffness locking and permanent immobility 2 It is associated with GNAS 3 A telltale symptom of POH is osteoma cutis under the skin of a newborn 4 It was discovered in 1994 by physician Frederick Kaplan 5 Contents 1 Diagnosis 2 See also 3 References 4 External linksDiagnosis editPatients with POH have a distinctly different manifestation of symptoms than those with fibrodysplasia ossificans progressiva FOP though heterotopic ossification appears in both diseases They lack the congenital abnormality of the big toe that is a diagnostic feature for FOP People with POH also have ossification of the skin during infancy which does not occur in FOP Also the pattern of ossification differs in POH spreading in an intramembranous fashion rather than endochondral 6 See also editFibrodysplasia ossificans progressiva Punctate porokeratosis List of cutaneous conditions PseudopseudohypoparathyroidismReferences edit Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 About POH Disease Retrieved 2012 06 15 Adegbite NS Xu M Kaplan FS Shore EM Pignolo RJ July 2008 Diagnostic and mutational spectrum of progressive osseous heteroplasia POH and other forms of GNAS based heterotopic ossification Am J Med Genet A 146A 14 1788 96 doi 10 1002 ajmg a 32346 PMC 2564798 PMID 18553568 Karen Kreeger October 9 2017 Piecing Together the Puzzle of a Rare Among Rare Bone Disorder University of Pennsylvania Health System Kaplan F S Craver R MacEwen G D Gannon F H Finkel G Hahn G Tabas J Gardner R J Zasloff M A 1994 Progressive osseous heteroplasia a distinct developmental disorder of heterotopic ossification Two new case reports and follow up of three previously reported cases Journal of Bone and Joint Surgery 76 3 425 436 doi 10 2106 00004623 199403000 00013 PMID 8126048 Kaplan Frederick S Shore Eileen M 2000 Progressive Osseous Heteroplasia Journal of Bone and Mineral Research 15 11 2084 2094 doi 10 1359 jbmr 2000 15 11 2084 PMID 11092391 S2CID 21642426 External links editAnsede Manuel 2023 07 18 The enigma of the girl who turns into bone while her identical twin remains healthy El Pais Retrieved from https en wikipedia org w index php title Progressive osseous heteroplasia amp oldid 1183551589, wikipedia, wiki, book, books, library,
