Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome

Virchows Archiv

Volumn 450, Issue 6, 2007, Pages 713-717

  Bläker, Hendrik ^a   Funke, Benjamin ^a   Hausser, Ingrid ^a   Hackert, Thilo ^a   Schirmacher, Peter ^a   Autschbach, Frank ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

COL3A1; Ehlers Danlos syndrome type IV; Large bowel perforation; Vascular type

Indexed keywords

COLLAGEN TYPE 3; PROCOLLAGEN TYPE 3 AMINOPROPEPTIDE;

ADULT; ARTICLE; BLOOD VESSEL RUPTURE; CASE REPORT; COLON; DIFFERENTIAL DIAGNOSIS; DIVERTICULOSIS; EHLERS DANLOS SYNDROME; FEMALE; HUMAN; HUMAN TISSUE; INTESTINE PERFORATION; LARGE INTESTINE; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; STOMACH MUSCLE;

ADULT; COLLAGEN TYPE III; COLON; COLONIC DISEASES; DIAGNOSIS, DIFFERENTIAL; DIVERTICULUM; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INTESTINAL PERFORATION; MALE; MICROSCOPY, ELECTRON;

EID: 34250850211     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00428-007-0415-6     Document Type: Article

References (24)

1. Anderson DW, Thakker-Varia S, Tromp G, Kuivaniemi H, Stolle CA (1997) A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. Hum Mutat 9:62-63
2. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 77:31-37
3. Collins MH, Schwarze U, Carpentieri DF, Kaplan P, Nathanson K, Meyer JS, Byers PH (1999) Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. Pediatr Dev Pathol 2:86-93
4. Cikrit DF, Glover JR, Dalsing MC, Silver D (2002) The Ehlers-Danlos specter revisited. Vasc Endovascular Surg 36:213-217
5. Demirogullari B, Karabulut R, Demirtola A, Karabulut B, Gol IH, Aybay C, Symoens S, Sonmez K, Basaklar AC, Kale N (2006) A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. J Pediatr Surg 41:27-30
6. De Paepe A, Malfait F (2004) Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 127:491-500
7. Forlodou P, de Kersaint-Gilly A, Pizzanelli J, Viarouge MP, Auffray-Calvier E (1996) Ehlers-Danlos syndrome with a spontaneous caroticocavernous fistula occluded by detachable balloon: case report and review of literature. Neuroradiology 38:595-597
8. Freeman RK, Swegle J, Sise MJ (1996) The surgical complications of Ehlers-Danlos syndrome. Am Surg 62:869-873
9. Gassler N, Helmke B, Sido B, Otto HF, Autschbach F (2001) Desmosis coli in adults. Differential diagnosis in chronic constipation. Pathologe 22:214-217
10. Germain DP, Herrera-Guzman Y (2004) Vascular Ehlers-Danlos syndrome. Ann Genet 47:1-9
11. Giunta C, Steinmann B (2000) Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat 16:176-177
12. Hubner U, Meier-Ruge W, Halsband H (2002) Four cases of desmosis coli: severe chronic constipation, massive dilatation of the colon, and hypoperistalsis due to of changes in the colonic connective-tissue net. Pediatr Surg Int 18:198-203
13. Kadler KE, Holmes DF, Trotter JA, Chapman JA (1996) Collagen fibril formation. Biochem J 316:1-11
14. Kahn T, Reiser M, Gmeinwieser J, Heuck A (1988) The Ehlers-Danlos syndrome, type IV, with an unusual combination of organ malformations. Cardiovasc Intervent Radiol 11:288-291
15. Kuivaniemi H, Tromp G, Prockop DJ (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-315
16. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355:788-798
17. Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, Kalra M, Sullivan T, Gloviczki P (2005) The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 42:98-106
18. Pepin M, Schwarze U, Superti-Furga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342:673-680
19. Pope FM, Martin G, Lichtenstein J, Penttinen R, Gerson B, Rowe D, McKusick V (1975) Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci 72:1314-1316
20. Schiebler TH, Peiper U, Schneider F (eds) (1986) Histologie, 2nd edn. Springer, Berlin
21. Steinmann B, Superti-Furga A, Joller-Jemelka HI, Cetta G, Byers PH (1989) Ehlers-Danlos syndrome type IV-a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen. Am J Med Genet 34:68-71
22. Superti-Furga A, Steinmann B (1988) Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule. Biochem Biophys Res Commun 150:140-147
23. Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B (1988) Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem 263:6226-6232
24. Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, Shinkai H, Sakai N, Shimada T, Hiroshima K, Kuriyama T (2002) Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J 19:195-198