SavedAdd your journal

Journals / Haseki Tıp Bülteni / 2014 / Cilt: 52 - Sayı: 2

Two Siblings Followed Up for Hereditary Multiple Exostoses

Herediter Multipl Egzositozis Tanısı ile Takip Edilen İki Kardeş

MELTEM EROL
Özgül YİĞİT
Oktay ADANIR
Mehmet TOKSÖZ
Halis NARİN
Veysel GÖK
Dilek BORAKAY
Murat KONYA
Pages
116–119
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this paper, we aimed to emphasize the necessity of close follow-up for the risk of malignant transformation of osteochondromas

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones.
📊
Key Findings & Data:Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children.
💡
Conclusion & Impact:In this paper, we aimed to emphasize the necessity of close follow-up for the risk of malignant transformation of osteochondromas
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones. Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children. Due to pressure effects of osteochondromas, compression of vessels, nerves and tendons, restriction of joint motion, and neurologic compromise as well as painful local symptoms can be seen. Here, we aimed to present two siblings who had generalized pain and swelling in different parts of the body. We detected multiple osteochondromas in different parts of their bodies, especially at the long bones. Our patients had painful local symptoms. There was no growth retardation, but the presence of many osteochondromas led us to contemplate that it was serious form of the disease. Their father had lesser number of osteochondromas. In this paper, we aimed to emphasize the necessity of close follow-up for the risk of malignant transformation of osteochondromas

Özet

Herediter çok odaklı egzositozis, otozomal dominant geçiş gösteren, daha çok uzun kemiklerde ortaya çıkan, anormal kemik yapımı ile karakterize bir hastalıktır. Hastalıkta oluşan osteokondromlar çocuklarda büyüme geriliği, lokal ağrılı semptomlar, damar sinir basıları, hareket kısıtlılığı ve nörolojik bulgulara neden olur. Bu makalede bacaklarında ve vücutlarının çeşitli bölgelerinde ağrı ve şişlik şikayetleri ile getirilen iki kardeş olgu sunuldu. Muayenede, özellikle uzun kemiklerde olmak üzere vücutlarında çok sayıda osteokondrom saptandı. Çeşitli bölgelerde lokalize ağrıları vardı, büyüme ve gelişmeleri normaldi. Osteokondrom sayılarının çok olması hastalığın ciddi formunun varlığını düşündürdü. Öykülerinden babalarında da osteokondrom olduğu ancak sayılarının daha az olduğu öğrenildi. Olgularımız, osteokondromların malign transformasyon olasılığı nedeniyle yakın takip edilmelerinin önemini vurgulamak amacıyla sunulmuştur

🔖

Cite This Article

EROL, M., YİĞİT, Ö., ADANIR, O., TOKSÖZ, M., NARİN, H., GÖK, V., BORAKAY, D., KONYA, M. (2014). Two Siblings Followed Up for Hereditary Multiple Exostoses. Haseki Tıp Bülteni, Cilt: 52 - Sayı: 2, 116–119. https://ajindex.com/articles/267907

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (7)

  1. Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with 2000;20:1407-34. correlation. Radiographics Vanhoenacker FM1, Van Hul W, Wuyts W, Willems PJ, De Schepper AM. Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol 2001;40:208-17.
  2. Stieber JR, Dormans JP. Manifestations of hereditary multiple exostoses. J Am Acad Orthop Surg 2005;13:110-20. Legeai-Mallet L1, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet 1997;52:12-6.
  3. Yılmaz E, Serin E, Ozdemir H, Varol T, Karakurt L. Dirsekte soliter osteokondroma bağlı gelişen ulnar sinir basısı: Olgu sunumu. Acta Orthop Traumatol Turc 2004;38:291-4. Greenfield GB. Hereditary multiple exostoses (diaphysael aclasis). In: Greenfield GB, editor. Radiology of bone diseases. Philadelphia: Lippincott, 1990.p. 672-78. Murphey MD1, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with 2000;20:1407-34. correlation. Radiographics Shapiro F, Simon S, Glimcher MJ. Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. J Bone Joint Surg Am 1979;61(6A):815-24.
  4. Francannet C, Cohen-Tanugi A, Le Merrer M, et al. Genotypephenotype correlation in hereditary multiple exostoses. J Med Genet 2001;38:430-4. Wicklund CL1, Pauli RM, Johnston D, Hecht JT. Natural history study of hereditary multiple exostoses. Am J Med Genet 1995;55:43-6.
  5. Schmale GA, Conrad EU, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994;76:986-92. Carroll KL1, Yandow SM, Ward K, Carey JC. Clinical correlation to genetic variations of hereditary multiple exostoses. J Pediatr Orthop 1999;19:785-91. Mehta M1, White LM, Knapp T, Kandel RA, Wunder JS, Bell RS. MR imaging of symptomatic osteochondroma with pathological correlation. Skeletal Radiol 1998;27:427-33.
  6. Bell RS, Musculoskeletal images. Malignant transformation in familial osteochondromatosis. Can J Surg 1999;42:8. Tsuchiaya H, Moriskawa S, Tomita K. Osteosarcoma arising from a multiple cartilaginous exostoses: a case report. Jpn J Clin Oncol 1990;20:296-8.
  7. Wuyts W, Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat 2000;15:220-7.