SCLEROTIC OSTEODYSPLASIAS

封面


如何引用文章

全文:

详细

Sclerotic osteodysplasias represent a group of relatively rare diseases; a common feature of them is the diffuse or local bone sclerosis. The reasons for their development are congenital abnormalities of endochondral and intramembranous bone formation either the hereditary nature or arising from spontaneous mutations. The main diagnostic problems arise when the differential diagnostic sclerotic dysplasias from various symptomatic osteopathies entailing bone sclerosis is needed. The aim of this research is the information about the group of rare congenital disorders characterized by diffuse and local osteosclerosis, and analysis of the literature on the diagnosis and differential diagnosis from other diseases and states, accompanied by compaction of bone tissue. A search of publications in English and Russian in electronic databases PUBMED, PUBMED CENTRAL, GOOGLE SHOLAR and eLIBRARY is performed. Keyword: sclerotic osteodisplasias, hyperostosis, osteopetrosis, osteopoikilosis, pyknodisostosis, melorheostosis, osteopathia striata, progressive diaphiseal dysplasia, diaphiseal sclerosis, enostosis and their Russian analogs for the period from 1953 to 2015. This clinical and radiological signs of osteopetrosis, osteopathia striata. osteopoikilosis, enostosis, piknodisostosis, progressive diaphyseal dysplasia, generalized hyperostosis cortical generalisata, melorheostosis and other forms of sclerotic osteodysplasias are presented. The main attention is paid to clinical and radiological diagnosis and differential diagnosis from osteoblastic metastases, primary benign and malignant bone tumors, chronic osteomyelitis and other diseases accompanied by local or diffuse osteosclerosis.

作者简介

A. Petrushin

Karpogory Central District Hospital

编辑信件的主要联系方式.
Email: petrushin.59@mail.ru
surgeon 俄罗斯联邦

N. Tyusova

Vyzhletsov Regional Children’s Clinical Hospital

Email: fake@neicon.ru
radiologist 俄罗斯联邦

T. Nekhoroshkova

Volosevich City Clinical Hospital

Email: fake@neicon.ru
radiologist 俄罗斯联邦

参考

  1. Белозерцева Л.В., Щаднева С.И., Каткова М.И., Скатова О.В., Пархоменко Ю.В., Калягин А.Н. Остеопетроз (мраморная болезнь). Современная ревматология. 2014; (1):23-26.
  2. Ильюшенкова В.В., Лазарихина Л.В. Остеопойкилия: наблюдение из практики. Тихоокеанский медицинский журнал. 2007; (3):82-83.
  3. Мирзоев Э.С. Два случая поражения костей конечностей мелореостозом (болезнь Лери-Жоани). Травматология и ортопедия России. 2008; (1): 54-55.
  4. Романова Т.А., Подсвирова Е.В., Сысоева Н.Я., Рубцова Л.В., Руднева Е.И., Восковская Л.Н., Махорнина Ю.В. Случай остеопетроза у ребенка 1 года 7 месяцев. Научные ведомости. Медицина. Фармация. 2011; (16, выпуск 15):274-280.
  5. Салихов И.Г., Бомбина Л.К., Лапшина С.А., Мухина Р.Г., Чембарисов И.И., Гайбарян А.А. Ревматологические проявления остеопойкилии. Современное состояние проблемы. Практическая медицина. 2008; (1):33-35.
  6. Сахаровская Е.Л., Stepensky P.Y., Reingold L.I., Дубровин М.М., Игнатова Д.А., Щербина А.Ю., Резник И.Б. Клинические проявления инфантильной (злокачественной) формы остеопетроза. Онкогематология. 2010; (4):28-32.
  7. Сахаровская Е.Л., Резник И.Б., Дубровин М.М., Павлова Г.П., Щербина А.Ю. Рентгенологическая картина злокачественного остеопетроза на ранних и поздних стадиях развития заболевания. Онкогематология. 2012; (4): 43-47.
  8. Al-Tamimi Y.Z., Tyagi A.K., Chumas P.D., Crimmins D.W. Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatrics. 2008; 1: 103-106.
  9. Alves N., Cantin M. Clinical and radiographic maxillofacial features of pycnodysostosis. Int J Clin Exp Med. 2014; 3:492-496.
  10. Amalnath S.D., Vivekanandan M. Sclerosterosis (Truswell-Hansen disease). Indian J Hum Genet. 2013; 2:270-272.
  11. Bansal R., Pathak A.C., Sheth B, Patil A.K. Traumatic fracture in a patient of osteopoikilosis with review of literature. J Orthop Case Report. 2013; 2:16-20.
  12. Bartsocas C.S. Pycnodysostosis: Toulouse-Lautrec’s and Aesop’s disease? Hormones (Athens). 2002; 1: 260-262.
  13. Beighton P. Pyle disease (metaphyseal dysplasia). J Med Gen. 1987;24:321-324.
  14. Beighton P., Horan F., Hamersma H. A review of the osteopetroses. Postgrad Med J. 1977;53:507-515.
  15. Benichou O.D., Laredo J.D., De Vernejoul M.C. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone. 2000;1:87-93.
  16. Benly I.T., Akalin S., Boysan E., Mumcu E.F., Kis M., Turkoglu D. Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br. 1992; 74:504-506.
  17. Bollerslev J., Andersen P.E. Jr. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 1988; 9:7-13.
  18. Byanima R.K., Nabawesi J.B. Camurati-Engelmann disease: a case report. Afr Haelth Sci. 2002; 3:118-120.
  19. Chanchairujira K., Chung C.B., Lai Y.M., Haghighi P., Resnick D. Intramedullary osteosclerosis: imaging features in nine patients. Radiology. 2001; 220:225-230.
  20. Chigira M., Kato K., Mashio K., Shinozaki N. Symmetry of bone lesion in osteopoikilosis. Report of 4 cases. Acta Orthop Scand. 1991; 62:495-496.
  21. De Vernejoul M.C. Sclerosing bone disorders. Best Pract Res Clin Rheumatol. 2008; 22:71-83.
  22. Di Primio G. Benign spotted bones: a diagnostic dilemma Canadian Med Association J. 2011; 183:456-459.
  23. Dissing I., Zafirovski G. Para-articular ossifications associated with melorheostosis Léri. Acta Orthop Scand. 1979; 50:717-719.
  24. Dozier T.S., Duncan I.M., Klein A.J., Lambert P.R., Key L.L. Jr. Otologic manifestations of malignant osteopetrosis. Otol Neurotol. 2005; 26:762-766.
  25. Elcioglu N.H., Vellodi A., Hall C.M. Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. J Med Genet. 2002; 39:603-607.
  26. Essabar L., Meskini T., Ettair S., Erreimi N., Mouane N. Malignant infantile osteopetrosis: case report with review of literature. Pan Afr Med J. 2014; 17:63.
  27. Faden M.A., Krakow D., Ezgu F., Rimoin D.L., Lachman R.S. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet. 2009; 149A:1334-1345.
  28. Greenspan A. Sclerosing bone dysplasias – a target-site approach. Skeletal Radiol. 199; 20:561-583.
  29. Hurt R.L. Osteopatia striata – Voorhoeve’s disease: report of a case presenting features of osteopathia striata and osteopetrosis. J Bone Joint Surg Br. 1953; 35:89-96.
  30. Ihde L.L., Forrester D.M., Gottsegen C.J., Masih S., Patel D.B., Vachon L.A., White E.A., Maychuk G.R.. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. RadioGraphics. 2011; 31:1865-1883.
  31. Jacobs P. Van Buchem disease. Postgrad Med J. 1977; 53:497-505.
  32. Janssens K., Gershoni-Baruch R., Van Hul E., Brik R., Guanabens N., Migone N., Verbruggen L. A., Ralston S. H., Bonduelle M., Van Maldergem L., Vanhoenacker F., Van Hul W. Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. J Med Genet. 2000; 37:245-249.
  33. Jones C.M., Rennie J.S., Blinkhorn A.S. Pycnodysostosis. A review of reported dental abnormalities and a report of the dental findings in two cases. Br Dent J. 1988; 164:218-220.
  34. Kamak H., Kamak G., Yavuz I. Clinical, radiographic, diagnostic and cephalometric features of рyknodysostosis in comparison with Turkish cephalometric norms: а case report. Eur J Dent. 2012; 6:454-456.
  35. Kherfani A., Mahjoub H. Melorheostosis: a rare entity: a case report. Pan Afr Med J. 2014;18: 251.
  36. Kutty N., Thomas D., George L., John T.B. Caffy disease or infantile cortical hyperostosis: a case report. Oman Med J. 2010;25: 134-136.
  37. Lazar C. M., Braunstein E. M., Econs M. J. Osteopathia striata with cranial sclerosis. J Bone Miner Res. 1999; 1:152-153.
  38. Loria-Cortes R., Quesada-Calvo E., Cordero-Chaverri C. Osteopetrosis in children: a report of 26 cases. J Pediatr. 1977; 9:43-47.
  39. Makita Y., Nishimura G., Ikegawa S., Ishii T., Ito Y., Okuno A. Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity? Am J Med Genet. 2000; 2:153-156.
  40. Meena S., Saini P., Chowdhary B. Multiple spots on bone: diagnostic challenge or spot diagnosis? The Nitherlands Med. 2013; 71:372-373.
  41. Mukkada J., Franklin T., Rajeswaran R., Joseph S. Ribbing Disease. Ind J Radiol Imaging. 2010; 20:47-49.
  42. Mumm S., Wenkert D., Zhang X., McAlister W.H., Mier R.J., Whyte M.P. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. J Bone Miner Res. 2007; 22:243-250.
  43. Odhiambo A., Moshy J., Otieno W. pyknodysostosis; early and delayed clinical manifestation. Professional Med J. 2011; 18:331-335.
  44. Offiah A.C., Hall C.M. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr Radiol. 2003; 33:153-161.
  45. An Online Catalog of Human Genes and Genetic Disorders. http://omim.org/entry/114000?search=caffey &highlight=caffey
  46. Paine K., Dickenson A. Worth syndrome as a diagnosis for mandibular osteosclerosis. Dentomaxillofascial Radiol. 2011; 40:531-533.
  47. Panda A., Gamanagatti Sh., Gupta A.K. Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 2014; 6:808-825.
  48. Perdu B., de Freitas F., Frints S.G.M., Schouten M., Schrander-Stumpel C., Barbosa M., Pinto-Basto J., Reis-Lima M., de Vernejoul M.-C., Becker K., Freckmann M.-L., Keymolen, K., Haan E., Savarirayan R., Koenig, R., Zabel, B., Vanhoenacker F.M., Van Hul W. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res. 2010; 1:82-90.
  49. Ramaiah K., George G., Padiyath S., Sethuraman R., Cherian B. Pyknodysostosis : report of a rare case with review of literature. Imaging Science in Dentistry. 2011; 41:177.
  50. Rohit S., Praven R.B., Sreedivi B., Sandeep P. Osteomyelitis in pycnodysostosis – report of 2 clinical cases. J Clin Diagn Res. 2015; 9:15-17.
  51. Sanjay S.C., Murtht K., Shukla A.K., Krishnappa N. Case report – pycnodysostosis. J Clin Diagn Research. 2015; 9:9-10.
  52. Seeger L.L., Hewel K.C., Yao L., Gold R.H., Mirra J.M., Chandnani V.P., Eckardt J.J. Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis. Am J Roentgenol. 1996; 167:689-694.
  53. Sefidbakht S., Ashouri-Taziant Y., Hoseini S., Ansrai M., Ahmadloo N., Mosalaei A., Omidvari S., Nasrolahi H., Mohammadianpanah M. Osteopoikilosis: a sign mimicking skeletal metastasis in a cancer patient. Middle East J Cancer. 2011; 2:37-41.
  54. Sert A., Atabek M.E., Pirgon O. Delayed open anterior fontanelle in a 10-year boy: pycnodysostosis. Turkie Cocuk Hastahkari Dergisi. 2007; 1:33-37.
  55. Siddiqui H.Q., Zabid M., Ahmed S., Siddiqui Y.S. Osteopoikilosis, clinical presentation. Saudi Med J. 2011; 32:534-535.
  56. Sim E. Osteopoikilosis and fracture Healing. Unfall Chirurgie. 1989; 15:303-305.
  57. Sit C., Agrawal K., Fogelman I., Gnanasegaran G. Osteopetrosis: radiological & radionuclide imaging. Indian J Nucl Med. 2015; 30:55-58.
  58. Sobacchi C., Schulz A., Coxon F.P., Villa A., Helfrich M.H. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013; 9:522-536.
  59. Spieth M.E., Greenspan A., Forrester D.M., Ansari A.N., Kimura R.L., Siegel M.E. Radionuclide imaging in form fruste of melorheostosis. Clin Nucl Med. 1994; 19:512-515.
  60. Stark Z., Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009; 4:5.
  61. Subbarao K. Skeletal dysplasia (Sclerosing dysplasias –part 1). Nepales J Radiol. 2013; 3:2-10.
  62. Tachdjian M.O. Pediatric Orthopedics. Philadelphia: W.B Saunders Co; 1990. 843р.
  63. Tolar J., Teitelbaum S.L., Orchard P.J. Osteopetrosis. N Eng J Med. 2004; 351:2839-2849.
  64. Van Lierop A.H., Hamdy N.A., Van Egmond M.E., Bakker E., Dikkers F.G., Papapoulos S.E. Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. J Bone Miner Res. 2013; 4:848-854.
  65. Vanhoenacker F.M., De Beuckeleer L.H., Van Hul W., Balemans W., Tan G.J., Hill S.C., De Schepper A.M. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 2000; 10:1423-1433.
  66. Viot G., Lacombe D., David A., Mathieu M., de Broca A., Faivre L., Gigarel N., Munnich A., Lyonnet S., Le Merrer M., Cormier-Daire V. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet. 2002; 107:1-4.
  67. Warman M.L., Cormier-Daire V., Hall C., Krakow D., Lachman R., LeMerrer M., Mortier G. Mundlos S., Nishimura G., Rimoin D.L., Robertson S., Savarirayan R., Sillence D., Spranger J., Unger S., Zabel B., Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011; 155:943-968.
  68. Whyte M.P., Wenkert D., McAlister W.H., Novack D.V., Nenninger A.R., Zhang X., Huskey M., Mumm S. Dysosteosclerosis presents as an «osteoclast-poor» form of osteopetrosis: comprehensive investigation of a 3-year old girl and literature review. J Bone Mineral Res. 2010; 25:2527-2539.
  69. Zhang C., Dai W., Yang Y., Tang Q., Yao Z. Melorheostosis and review of the literature in China. Intractable and rare diseases research. 2013; 2:51-54.

补充文件

附件文件
动作
1. JATS XML

版权所有 © , 2016



СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 82474 от 10.12.2021.


##common.cookie##