Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia | ||
The Archives of Bone and Joint Surgery | ||
مقاله 18، دوره 4، شماره 3، مهر 2016، صفحه 285-288 اصل مقاله (1.06 M) | ||
نوع مقاله: CASE REPORT | ||
شناسه دیجیتال (DOI): 10.22038/abjs.2016.7176 | ||
نویسندگان | ||
Ali Birjandinejad1؛ Mohammad-Hossein Taraz-Jamshidi2؛ Sayyed-Hadi Sayyed-Hosseinian* 3 | ||
1Orthopedic research center, Shahid Kamyab Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. | ||
2Associated Professor of Orthopedic surgery, Orthopedic Research Center, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran | ||
3Orthopedic Research Center, Shahid Kamyab Hospital, Mashhad University of Medical Sciences, Mashhad, Iran | ||
چکیده | ||
Progressive osseous heteroplasia is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. The disease should be distinguished from other genetic disorders of heterotopic ossification including fibrodysplasia ossificans progressiva (FOP) and Albright hereditary osteodystrophy (AHO). We report a case of progressive osseous heteroplasia in a twenty four years old male with a complaint of ankylosis of the entire upper left limb and digital cutaneous lesions and sparing of the other limbs and the axial skeleton. Absence of great toe malformation, presence of cutaneous ossification, dermal bone spicules extruding in fingers, and involvement of just left upper limb were unique findings in contrast with FOP diagnosis in this case. There is no effective treatment or prevention for POH. Awareness of diagnostic features is necessary in early diagnosis of POH. | ||
کلیدواژهها | ||
Congenital abnormalities؛ Heterotopic ossification؛ Progressive osseous heteroplasia | ||
مراجع | ||
1. Kaplan FS, Craver R, MacEwen GD, Gannon FH, Finkel G, Hahn G, et al. Progressive osseous heteroplasia: a distinct developmental disorder of. J Bone Joint Surg Am. 1994; 76(3):425-36. 2. Pignolo RJ, Ramaswamy G, Fong JT, Shore EM, Kaplan FS. Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. Appl Clin Genet. 2015; 8:37-48. 3. Seror R, Job-Deslandre C, Kahan A. Progressive osseous heteroplasia: a rare case of late onset. Rheumatology (Oxford). 2007; 46(4):716 -7. 4. Miller ES, Esterly NB, Fairley JA. Progressive osseous heteroplasia. Arch Dermatol. 1996; 132(7):787-91. 5. Elli FM, Barbieri AM, Bordogna P, Ferrari P, Bufo R, Ferrante E, et al. Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. Bone. 2013; 56(2):276-80. 6. 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; 11(4):339 -42. 7. Singh GK, Verma V. Progressive osseous heteroplasia in a 10-year-old male child. Indian J Orthop. 2011; 45(3):280-2. 8. Santiago F, Vieira R, Cordeiro M, Tellechea O, Figueiredo A. Unilateral progressive osseous heteroplasia. Eur J Dermatol. 2009; 19(3):214-5. 9. Rodriguez-Jurado R, Gonzalez-Crussi F, Poznanski AK. Progressive osseous heteroplasia, uncommon cause of soft tissue ossification: a case report and review of the literature. Pediatr Pathol Lab Med. 1995; 15(5):813-27. 10. Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. J Pediatr Endocrinol Metab. 2015; 28(7-8):911-8. 11. Pgnolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis. 2011; 6(1):80. 12. 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; 146A(14):1788-96. 13. Schrander DE, Welting TJ, Caron MM, Schrander JJ, van Rhijn LW, Körver-Keularts I, 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. 14. Goto M, Mabe H, Nishimura G, Katsumata N. Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. J Pediatr Endocrinol Metab. 2010; 23(3):303-9. 15. Schimmel RJ, Pasmans SG, Xu M, Stadhouders-Keet SA, Shore EM, Kaplan FS, et al. GNAS-associated disorders of cutaneous ossification: two different clinical presentations. Bone. 2010; 46(3):868-72. 16. Kumagai K, Motomura K, Egashira M, Tomita M, Suzuki M, Uetani M, et al. A case of progressive osseous heteroplasia: a first case in Japan. Skeletal Radiol. 2008; 37(6):563-7. 17. Hou JW. Progressive osseous heteroplasia controlled by intravenous administration of pamidronate. Am J Med Genet A. 2006; 140(8):910-3. 18. 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; 29(1):77-80. | ||
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