Buschke — Ollendorff syndrome in infant patients



Cite item

Full Text

Abstract

The authors present a clinical and histological description of two clinical cases of a rare inherited disease, Buschke — Ollendorff syndrome. In both cases, the disease was not accompanied by the bone tissue dysplasia but at the same time it was characterized by a clear histological pattern specific of this syndrome. The authors provide literature data and discuss issues related to the pathogenesis and particular features of the clinical picture and diagnostics of the disease.

Full Text

Синдром Бушке — Оллендорф у пациентов детского возраста
×

References

  1. Pierard G.E., Lapiere C. Nevi of connective tissue a reappraisal of their classification. Am.J. Dermatopathol, 1985; 7(4): 325—333.
  2. Pediatric Dermatology. / Schachner L.A., Hanser R.G. — Mosbi, 2003.
  3. Гребенюк В.Н., Альбанова В.И., Бурова Е.А. Соединительнотканные невусы у детей. Вестн. дерматол. 1993; 2: 41—46.
  4. Михайлова А.В., Клинико-морфологическая характеристика соединительнотканных пороков развития кожи. Дисс. к.м.н., М., 2003; 88.
  5. Buschke A, Ollendorff-Curth H. Ein fall von dermatofibrosis lenticularis disseminata und osteopatha condensans disseminata. Derm Wochenschr, 1928; 86: 257—262.
  6. Schimpf A., Roth W., Kopper J. Dermatofibrosis lenticularis disseminata mit Ostepoikilie. Buschke — Ollendorff Syndrome. Dermatologica, 1971; 141: 409—420.
  7. Мордовцев В.Н., Мордовцева В.В. Наследственные болезни и пороки развития кожи. М.: Наука. 2004; 83—84.
  8. Елькин В.Д., Митрюковский Л.С, Седова Т.Г. Избранная дерматология. Редкие дерматозы и дерматологические синдромы. Изд. 2-е. Пермь. 2004, 585 с.
  9. Verbov J., Graham R. Buschkc Ollendorf Syndrome—disseminated dermatofibrosis with osteopoikilosis. Clin Exp Dermatol 1986; 11: 17—26.
  10. Uitto J., Santa Cruz D.J., Starcher B.C., Whyte M.P., Murphy W.A. : Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke — Ollendorff syndrome. J Invest Dermatol 1981; 76: 284—287.
  11. de la Salmoniere P, Janier M, Chemlal K, Lazareth I, Carlotti A, Charasson I, et al. (Buschke — Ollendorff syndrome) Ann. Dermatol Venerol 1994; 121: 718—720.
  12. Woodrow S.L, Pope F.M, Handfield-Jones S.E: The Buschke — Ollendorff syndrome presenting as familial elastic tissue naevi. Br J Dermatol 2001; 144: 890—893.
  13. Assmann A., Mandt N., Geilen C.C., Blume-Peytavi U. Buschke — Ollendorff syndromedifferential diagnosis of disseminated connective tissue lesions. Eur J Dermatol. 2001; 11: 576—579.
  14. Schena D., Germi L., Zamperetti M.R., Colato C., Girolomoni G. Buschke — Ollendorff syndrome. Int J Dermatol 2008; 47: 1159—1161. Литература
  15. Burger B., Hershkovitz D., Indelman M., Kovak M., Galambos J. et.el. Buschke — Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropo-elastin expression. Eur J Dermatol 2010; 20: 693—697.
  16. Stieda A., Ueber umschriebene Knochenverdichtungen im Bereich der Substantia spongiosa im Roentgenbilde. Brun’s Beitr.klin.Chir 1905; 45: 700—703.
  17. Albers-Schonberg H.E. Eine seltene, bisher nicht bekannte Struktiranomalie des Skelettes. Fortschr Rontgenstr 1916; 23: 174—177.
  18. Melnick J.C. Osteopathia condensans disseminata (osteopoikilosis): study of a family of 4 generations. Am J Roentgenol Radium Ther Nucl Med 1959; 82: 229—238.
  19. Roberts N.M., Langtry J.A., Branfoot A.C., et al. Osteopoikilosis and the Buschke — Ollendorff syndrome. Br J of radiology 1993; 66: 468—470.
  20. Kim G.H., Dy L.C., Caldemeyer K.S., Mirowski G.W. Buschke — Ollendorff syndrome. J Am Acad Dermatol 2003; 48: 600—601.
  21. Atherton D.J., Wells R.S. Juvenile elastoma and osteopoikilosis (the Buschke — Ollendorff syndrome). Clin.Exp.Dermatol.1982; 7: 109—113.
  22. Yadegari M., Whyte M.P., Mumm S., Phelps R.G. et.al. Buschke — Ollendorff syndrome: absence of LEMD3 mutation in an affected family. Arch. Dermatol 2010; 146: 63—68.
  23. Ohnishi Y., Akiyama M., Tajima S. et.al. Elastic nevus with normal expression of elastin-related proteins mRNAs. Dermatol 1999; 198: 307—309.
  24. Hellemans J., Preobrazhenska O., Willaert A., Debeer P., Verdonk P.C., Costa T., et al. Loss-of-function mutation in LEMD3 result in osteopoikilosis, Buschke — Ollendorff syndrome and melorheostosis. Nat Genet. 2004; 36: 1213—1218.
  25. Morrison J.G., Jones E.W., MacDonald D.M. Juvenile elastoma and osteopoikilosis (the Buschke — Ollendorff Syndrome). Br J Dermatol 1977; 97: 417—422.
  26. Ben-Asher E., Zelzer E., Lancet D. LEMD3: the gene responsible for bone density disorders (osteopoikilosis). Isr Med Assoc J 2005; 7: 273—274.
  27. Lin F., Morrison J.M., Wu W., Worman H.J. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum. Mol. Genet. 2005; 14: 437—445.
  28. Zhang Y., Castori M., Ferranti G., Paradisi M., Wordsworth B.P. Novel and recurrent germline LEMD3 mutations causing Buschke — Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clin Genet 2009; 75: 556—561.
  29. Yuste-Chaves M., Canueto J., Santos-Briz A. et.al. Buschke — Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. Pediatr. Dermatol. 2011; 28: 447—450.
  30. Gass J.K., Hellemans J., Mortier G., Griffiths M., Burrows N.P. Buschke — Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene. J Am Acad Dermatol 2008; 58: 103—104.
  31. Couto A.R., Bruges-Armas J., Peach C.A. et al. A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcif Tissue Int 2007; 81: 81—84.
  32. Mumm S., Wenkert D., Zhang X., et al: Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke — Ollendorff syndrome, but not sporadic melorheostosis. J Bone Miner Res 2007; 22: 243—250.
  33. Trattner A., David M., Rothem A., Ben-David E., Sandbank M. Buschke — Ollendorff syndrome of the scalp: histologic and ultrastructural findings. J Am Acad Dermatol 1991; 24: 822—824.
  34. Giro M.G., Duvic M., Smith L.T., Kennedy R., Rapini R., Arnett F.C., Davidson J.M. Buschke — Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. J Invest Dermatol 1992; 99: 129—137.
  35. Hellemans J., Debeer P., Wright M. et al. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 2006; 27: 290—296.
  36. Kobayashi H., Kasahara M., Hino M. et al. A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke — Ollendorff syndrome. J Endocrinol Invest. 2007; 30 (3): 263—265.
  37. Dereure O. Buschke — Ollendorff syndrome: inactivating mutation of the LEMD3 gene. Ann Dermatol Venereol. 2005; 132 (6—7 Pt 1): 593.
  38. Liu J.M., Davidson J.M. The elastogenic effect of recombinant transforming growth factor- on porcine aortic smooth muscle cells. Biochem Biophys Res Commun 1988; 154: 895—901.
  39. Fazio M.J., Olsen D.R., Kuivianiemi H., Chu M-L., Davidson J.M., Rosenbloom J., Uitto J. Isolation and characterization of human elastin cDNAs, and age-associated variation in elastin gene expression in cultured skin fibroblasts. Lab Invest 1988; 58: 270—277.
  40. Davidson J.M., Zoia O. Basic fibroblast growth factor and transforming growth factor-antagonize the stimulation of elastin production by transforming growth factor-1 in fibroblasts and smooth muscle cells. Matrix 1990; 10: 254—255.
  41. Davidson J.M., Shibahara S., Mason M.L., Boyd C.D., Tolstoshev P., Crystal R.G. Increase in hybridizable elastin mRNA levels during fetal development of sheep nuchal ligament and lung. Biochem J 1984; 220: 643—652.
  42. Piette-Brion B., Lowy-Motulsky M., Ledoux-Corbusier M., Achten G. Dermatofibromas, elastomas and deafness: a new case of Buschke — Ollendorff syndrome. Dermatologica 1984; 168: 255—258.
  43. Schnur R.E., Grace K., Herzberg A. Buschke — Ollendorff syndrome, otosclerosis, and congenital spinal stenosis Pediatr Dermatol 1994; 11: 31—34.
  44. Vergara A., Isarria M.J., Sanchez-Camine-ro P., Rodriguez-Peralto J.L., Guerra A. Family Buschke — Ollendorff syndrome. Actas Der-mosifiliogr. 2005; 96: 52—53.
  45. Reid E.M., Baker B.L., Stees M.A., Stone S.P. Buschke — Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. Pediatr Dermatol 2008; 25: 349—351.
  46. Danielson L., Midtgaard K., Christensen H.E. Osteopoikilosis associated with dermatofibrosis lenticularis disseminata. Arch Dermatol 1969; 100: 465—470.
  47. Reinhardt L.A., Rountree B.D., Wilkens J.K.: Buschke — Ollendorff Syndrome. Cutis 1983; 31: 94—96.
  48. Dahan S., Bonafe J.L., Laroche M., et al. Iconography of Buschke — Ollendorff syndrome: x ray computed tomography and nuclear magnetic resonance of osteopoikilosis Ann Dermatol Venerol 1989; 116: 225—230.
  49. Miklaszewska M., Szybejko-Machaj G., Szepietowski J. Buschke — Ollendorff syndrome — case report with a literature review. Dermatol Klin Zabieg 1999; 2: 85—89.
  50. Ehrig T., Cockerell C.J.: Buschke — Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. J Am Acad Dermatol 2003; 49: 1163—1166.
  51. Happle R. Buschke-Ollendorf syndrome: early, unilateral and pronounced involvement may be explained as a type 2 segmental manifestation. Eur J Dermatol 2001; 11: 505.
  52. Hassikou H., Tabache F., Safi S., Baaj M., Hadri L. Buschke — Ollendorff syndrome. Joint Bone Spine 2008; 75: 212—214.
  53. Schorr W.F., Opitz J.M., Reyes C.N. The connective tissue nevus-osteopoikilosis syndrome. Arch Dermatol 1972; 106: 208—214.
  54. Uitto J., Santa Cruz D.J., Eisen A.Z. Connective tissue nevi of the skin: Clinical, genetic, and histopathologic classification of hamartomas of the collagen, elastin, and proteoglycan type. J Am Acad Dermatol 1980; 3: 441—461.
  55. Bauer E.A., Uitto J. Collagen in cutaneous diseases. Int J Dermatol 1979; 18: 251—270.
  56. Reymond J.L., Stoebner P.,Beani JC, Amblard, P: Buschke — Ollendorff Syndrome. An electron microscopic study. Dermatologica 1983; 166: 64—68.
  57. Kawamura A.I, Ochiai T., Tan-Kinoshita M., Suzuki H. Buschke — Ollendorff syndrome: three generations in a Japanese family Pediatr Dermatol 2005; 22: 133—137.
  58. Walpole I.R., Manners P.J. Clinical considerations in Buschke — Ollendorff syndrome Clin Genet 1990; 37: 59—63.
  59. Ghomrasseni S., Dridi M., Bonnefoix M., Septier D., Gogly G., Pellat B., Godeau G. Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke — Ollendorff and Williams-Beuren syndromes. J Eur Acad Dermatol Venereol 2001; 15: 305—311.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2012 PROSHUTINSKAYA D.V., TROFIMCHUK I.A., KATUNINA O.R., KOCHETKOV M.A.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
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 - 60448 от 30.12.2014.


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies