GI manifestations of Ehlers-Danlos syndrome

American Journal of Gastroenterology

Volumn 91, Issue 11, 1996, Pages 2282-2288

  Solomon, Jeffrey A ^b   Abrams, Lisa ^b   Lichtenstein, Gary R ^a  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE 2; COLLAGEN TYPE 3; COLLAGEN TYPE 4; COLLAGEN TYPE 5; COLLAGEN TYPE 6; COLLAGEN TYPE 7;

ACUTE ABDOMEN; ANEURYSM; APPENDICITIS; ARTERIOVENOUS FISTULA; BLOOD VESSEL INJURY; COLLAGEN METABOLISM; COLON PERFORATION; DIGESTIVE SYSTEM PERFORATION; EHLERS DANLOS SYNDROME; GASTROINTESTINAL HEMORRHAGE; HIATUS HERNIA; HUMAN; MOUTH DISEASE; PEPTIC ULCER; PRIORITY JOURNAL; RECTUM PROLAPSE; REVIEW; SMALL INTESTINE PERFORATION;

EHLERS-DANLOS SYNDROME; ESOPHAGEAL DISEASES; GASTROINTESTINAL DISEASES; HUMANS; MOUTH DISEASES;

EID: 0029823270     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (42)

1. Beighton P, The Ehlers-Danlos syndrome: McKusick's heritable disorders of connective tissue, 5th ed. St. Louis: Mosby, 1993.
2. Beighton P, dePaepe A, Danles D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 1988;29:581-94.
3. Byers P. Ehlers-Danlos syndrome: Recent advances and current understanding of the clinical and genetic heterogeniety. J Dermatol 1994;5:47s-50s.
4. Spiro M, Janiak B. Spontaneous rupture of the sigmoid colon in a patient with Ehlers-Danlos syndrome. Ann Emerg Med 1984;13(10): 960-2.
5. Scully R, Galdabini J, McNeely B. Case records of the Massachusetts General Hospital. N Engl J Med 1979;300(3):129-35.
6. Stryer L. Biochemistry, 3rd ed. New York: W.H. Freeman and Company, 1988: 261-73.
7. Wheater P, Burkitt H, Daniels V. Functional histology, 2nd ed. New York: Churchill Livingston, 1987: 52-3.
8. Yeowell H, Pinnel S. The Ehlers-Danlos syndromes. Semin Dermatol 1993;12(3):229-40.
9. Moro L, Colombi M, Zoppi N, et al. Correction of the defective extracellualr matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone. Cell Biol Int 1994;18(1):29-37.
10. Hausser I, Anton-Lamprecht I. Differential ultrastructure aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification. Hum Genet 1994;3:394-407.
11. Beighton P, Murdoch L, Votteler T. Gastrointestinal complications of the Ehlers-Danlos Syndrome. Gut 1969;10:1004-8.
12. Serry C, Agomouh O, Goldin M. Review of Ehlers-Danlos syndrome. J Cardiovasc Surg 1988;29:530-4.
13. Wesley J, Mahour H, Woolley M. Multiple surgical problems in two patients with Ehlers-Danlos Syndrome. Surgery 1980;87:319-24.
14. Phadke J. Ehlers-Danlos Syndrome with surgical repair of eventration of diaphragm and torsion of stomach. J R Soc Med 1979;72:781-3.
15. Habein H. Ehlers-Danlos Syndrome with spontaneous rupture of the esophagus. Rocky Mountain Med J 1977;74:78-80.
16. Byard RW, Keeley FW, Smith CR. Type IV Ehlers-Danlos syndrome presenting as sudden infant death. Am J Clin Pathol 1990;93:579-82.
17. Schofield PF, Macdonald N, Clegg JF. Familial spontaneous rupture of the colon: Report of two cases. Dis Colon Rectum 1970;13:394-6.
18. Sarra-Carbonell S, Jimenez SA. Ehlers-Danlos syndrome associated with acute pancreatitis. J Rheumatol 1989;16(10):1390-4.
19. Aldridge RT. Ehlers-Danlos syndrome causing intestinal perforation. Br J Surg 1967;54:22-5.
20. Linnemann M. Ehlers-Danlos syndrome presenting with torsion of the stomach. Proc R Soc Med 1975;68:330-2.
21. Shaikh NA. Ehlers-Danlos syndrome presenting with infarction of the stomach. J R Soc Med 1988;81:611.
22. Pope F, Nicholls AC, Narcisi P, et al. Type III collagen mutations in Ehlers-Danlos syndrome type IV and other related disorders. Clin Exp Dermatol 1988;13:285-302.
23. Hines C Jr, Davis WD Jr. Ehlers-Danlos syndrome with megaduodenum and malabsorption secondary to bacterial overgrowth: A report of the first case. Am J Med 1973;54:539-43.
24. Grant K, Aldor T. Haemorrhage into the upper part of the gastrointestinal tract in three patients with heritable disorders of connective tissue. Aust Ann Med 1967;16(1):75-9.
25. Harris RD. Small bowel dilation in Ehlers-Danlos syndrome: An unreported gastrointestinal manifestation. Br J Radiol 1974;47:632-7.
26. Stillman A, Painter R, Hollister D. Ehlers-Danlos syndrome type IV: Diagnosis and therapy of associated bowel perforation. Am J Gastroenterol 1991;86:360-2.
27. Sykes E. Colon perforation in Ehlers-Danlos syndrome. Am J Surg 1984;147:410-3.
28. Shi E, Bahane TD, Bowring AC. Prophylactic colectomy in Ehlers-Danlos syndrome with colonic ectasia. J Pediatr Surg 1989;24:1187-8.
29. Nardone DA, Reuler JB, Girard DE. Gastrointestinal complications of Ehlers-Danlos syndrome. N Engl J Med 1979;300:863-4.
30. Soucy P, Eidus L, Keeley F. Perforation of the colon in a 15 year old girl with Ehlers-Danlos type IV. J Pediatr Surg 1990;25:1180-2.
31. Sigurdson E, Stern HS, Houpt J, et al. The Ehlers-Danlos syndrome and colonic perforation. Dis Colon Rectum 1985:28:962-6.
32. Schippers E, Dittler H. Multiple hollow organ dysplasia in Ehlers-Danlos syndrome. J Pediatr Surg 1989;24:1181-3.
33. Berney T, La Scala G, Vettorel D, et al. Surgical pitfalls in a patient with type IV Ehlers-Danlos syndrome and spontaneous colonic ruptire. Dis Colon Rectum 1994;37:1038-41.
34. Beighton P, Horan FT. Surgical aspects of the Ehlers-Danlos syndrome. Br J Surg 1969;56255-92.
35. Silva R, Cogbill T, Hansbrough J, et al. Intestinal perforation and vascular rupture in Ehlers-Danlos Syndrome. Int Surg 1986;71:48-50.
36. Hulme JR, Wilmshust CC. Acute appendicitis in the Ehlers-Danlos syndrome. Am J Surg 1976;132:103-4.
37. Pope F, Narcisi P, Nicholls A, et al. Clinical presentaions of Ehlers-Danlos Syndrome type IV. Arch Dis Childhood 1988;63:1016-25.
38. Beighton PH. Gastrointestinal bleeding in the Ehlers-Danlos syndrome. Br Med J 1968;1:315.
39. Sherry RM, Fisch A, Grey DP, et al. Embolization of a hepatoportal fistula in a patient with Ehlers-Danlos syndrome and colon perforation. Surgery 1992;111:475-8.
40. Gertsh P, Loup PW, Lochman A, et al. Changing patterns in the vascular form of Ehlers-Danlos syndrome. Arch Surg 1986;121: 1061-4.
41. Shores J, Berger KR, Pyeritz RE. Progression of aortic dilitation and the benefit of long term beta adrenergic blockade in Marfan's syndrome. N Engl J Med 1994;330:1135-41.
42. Tilstra D, Byers P. Molecular basis of hereditary disorders of connective tissues. Annu Rev Med 1994;45:149-63.