BibTex RIS Kaynak Göster

Fibrodysplasia Ossificans Progressiva in an Adult Indian Male

Yıl 2014, Cilt: 39 Sayı: 4, 0 - , 22.07.2014
https://doi.org/10.17826/cutf.55160

Öz

Following its first description by Guy Patin in 1692 as a disease that turned a woman into wood, Fibrodysplasia Ossificans Progressiva has maintained its low profile that too mainly in textbooks and rarely does one encounter a live walking individual affected by this entity. The hallmarks of this deadly disease are the short size of only the big toes and uninhibited progressive ossification of soft tissues. It can have a sporadic occurrence or may even be inherited through autosomal dominant pattern and has a wide range of expression. A wrong clinical diagnosis exposes the patient to unnecessary surgical excision and even harmful radiotherapy.Hence a case of Fibrodysplasia Ossificans Progressiva in an adult Indian male is being reported here for the benefit of one and all.

Kaynakça

  • Illingworth, RS. Myositis OssificansProgressiva (Munchmeyer's Disease), Archives of Disease in Childhood 1971;46:264.
  • Kaplan, FS; Glaser, DL; Hebela, N; Shore, EM. Heterotropic Ossification. Journal of the American Academy of Orthopedic Surgeons. 2004;12:116-125.
  • Rogers, JG; Geho, WB. FibrodysplasiaOssificansProgressiva. J Bone joint Surg (Am). 1979;61:909.
  • Connor, JM; Evans, DAP. FibrodysplasiaOssificansProgressiva. The Clinical Features and Natural History of 34 Patients. The Journal of Bone and Joint Surgery. 1982;64:76-83.
  • Meij, EH; van der Becking, AG; Waal, I van der. FibrodysplasiaOssificans progressive. An unusual cause of restricted mandibular movement. Oral Diseases. 2005;12:204-7
  • Kingsley, DM. the TGF-b super family: new members, new receptors and new genetic tests of function in different organisms. Genes Development. 1994;8:133-46.
  • Kachewar SG, Sankaye SB and Kulkarni DS. The role of Radio-diagnosis in Inborn Errors of Metabolism. Journal of Clinical and Diagnostic Research. 2011;5:1467-72.
  • Kingsley, DM. What do BMPs do in mammals? Clues from the mouse short ear mutation. TIG. 1994;10:16
  • Smith, R; Athanasou, NA; Vipond, SE; Fibrodysplasia (myositis) Ossificansprogressiva: clinic-pathological features and natural history, the Nuffield Orthopaedic Centre, Headington, Oxford, UK, Q J Med. 1996;89:445-56.
  • Kachewar SG, Sankaye SB. Reviewer index: a new proposal of rewarding the reviewer.Mens Sana Monogr. 2013;11:274-84.
  • Lanchoney, TF; Olmstead, EA; Shore, EM; et al. Characterization of bone morphogenetic protein 4 receptor in Fibrodysplasiaossificansprogressiva. Clinorthop. 1998;346:38- 45.
  • Kaplan, FS; Glaser, DL; Hebela, N; Shore, EM. Heterotropic Ossification. Journal of the American Academy of Orthopedic Surgeons 2004;12:116-25.
  • YazışmaAdresi / Address for Correspondence: Dr. Rachit Harjai Mahatma Gandhi Medical College and Hospital, i Jaipur, INDIA Email: radsgk@gmail.com. G eliştarihi/Received on : 06.01.2014
  • Kabul tarihi/Accepted on: 14.02.2014

Yetişkin Bir Hintli Erkekte Progresif Ossifikan Fibrodisplazi

Yıl 2014, Cilt: 39 Sayı: 4, 0 - , 22.07.2014
https://doi.org/10.17826/cutf.55160

Öz

İlk olarak 1692 yılında Guy Patin tarafından kadınları ahşaba dönüştüren hastalık olarak tanımlanmasını takiben Progresif Ossifikan Fibrodisplazi, bir çok kitapta genelde olarak düşük bir profil muhafaza etmiş ve nadiren bu durum tarafından etkilenen yaşayan bireylere rastlanmıştır. Bu ölümcül hastalığın işaretleri sadece büyük ayak baş parmağının kısalığı ve yumuşak dokuların engellenemeyen progresif kemikleşmesidir. Sporadik oluşuma sahip olabilir, hatta otozomal dominant pattern yoluyla kalıtılabilir ve geniş bir ifade yelpazesine sahip olabilir. Yanlış bir klinik tanı hastayı gereksiz cerrahi eksizyona ve hatta zararlı radyoterapiye maruz bırakır. Yetişkin Hintli erkeklerdeki Progresif Ossifikan Fibrodisplazi vakasına bağlı durum, herkesin yararı için burada rapor edilmiştir.

Kaynakça

  • Illingworth, RS. Myositis OssificansProgressiva (Munchmeyer's Disease), Archives of Disease in Childhood 1971;46:264.
  • Kaplan, FS; Glaser, DL; Hebela, N; Shore, EM. Heterotropic Ossification. Journal of the American Academy of Orthopedic Surgeons. 2004;12:116-125.
  • Rogers, JG; Geho, WB. FibrodysplasiaOssificansProgressiva. J Bone joint Surg (Am). 1979;61:909.
  • Connor, JM; Evans, DAP. FibrodysplasiaOssificansProgressiva. The Clinical Features and Natural History of 34 Patients. The Journal of Bone and Joint Surgery. 1982;64:76-83.
  • Meij, EH; van der Becking, AG; Waal, I van der. FibrodysplasiaOssificans progressive. An unusual cause of restricted mandibular movement. Oral Diseases. 2005;12:204-7
  • Kingsley, DM. the TGF-b super family: new members, new receptors and new genetic tests of function in different organisms. Genes Development. 1994;8:133-46.
  • Kachewar SG, Sankaye SB and Kulkarni DS. The role of Radio-diagnosis in Inborn Errors of Metabolism. Journal of Clinical and Diagnostic Research. 2011;5:1467-72.
  • Kingsley, DM. What do BMPs do in mammals? Clues from the mouse short ear mutation. TIG. 1994;10:16
  • Smith, R; Athanasou, NA; Vipond, SE; Fibrodysplasia (myositis) Ossificansprogressiva: clinic-pathological features and natural history, the Nuffield Orthopaedic Centre, Headington, Oxford, UK, Q J Med. 1996;89:445-56.
  • Kachewar SG, Sankaye SB. Reviewer index: a new proposal of rewarding the reviewer.Mens Sana Monogr. 2013;11:274-84.
  • Lanchoney, TF; Olmstead, EA; Shore, EM; et al. Characterization of bone morphogenetic protein 4 receptor in Fibrodysplasiaossificansprogressiva. Clinorthop. 1998;346:38- 45.
  • Kaplan, FS; Glaser, DL; Hebela, N; Shore, EM. Heterotropic Ossification. Journal of the American Academy of Orthopedic Surgeons 2004;12:116-25.
  • YazışmaAdresi / Address for Correspondence: Dr. Rachit Harjai Mahatma Gandhi Medical College and Hospital, i Jaipur, INDIA Email: radsgk@gmail.com. G eliştarihi/Received on : 06.01.2014
  • Kabul tarihi/Accepted on: 14.02.2014
Toplam 14 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Araştırma
Yazarlar

Rachit Harjai Bu kişi benim

Sushil Ghanshyam Kachewar Bu kişi benim

Yayımlanma Tarihi 22 Temmuz 2014
Yayımlandığı Sayı Yıl 2014 Cilt: 39 Sayı: 4

Kaynak Göster

MLA Harjai, Rachit ve Sushil Ghanshyam Kachewar. “Yetişkin Bir Hintli Erkekte Progresif Ossifikan Fibrodisplazi”. Cukurova Medical Journal, c. 39, sy. 4, 2014, doi:10.17826/cutf.55160.