Death from colonic disease in epidermolysis bullosa dystrophica

Springer Science and Business Media LLC - Tập 6 Số 1 - 2006
Chih-Hsin Hsieh1, Che-Jen Huang2, Gau-Tyan Lin3
1Department of Emergency, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
2Division of Gastroenterology and General Surgery, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
3Department of Orthopaedic Surgery, Chung-Ho Memorial Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan

Tóm tắt

AbstractBackgroundSquamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). Death from colonic disease in epidermolysis bullosa (EB) is never reported.Case presentationWe demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at age 35 years.ConclusionConstipation is a common clinical feature of RDEB, but fetal complications of chronic constipation are rarely reported. To the author's best knowledge, it has not been reported or recognized in the English literature previously. The aggressive assessment of constipation with fecal impaction is recommended in patients with RDEB.

Từ khóa


Tài liệu tham khảo

Kero M: Occurrence of epidermolysis bullosa in Finland. Acta Derm Venereol (Stockh) 1984, 64: 57–62.

Pavicic Z, Kmet-Vizintin P, Kansky A, Dobric I: Occurrence of hereditary epidermolysis bullosa in Croatia. Pediatr Dermatol 1990, 7: 108–10.

McKenna KE, Walsh MY, Bingham EA: Epidermolysis bullosa in Northern Ireland. Br J Dermatol 1992, 127: 318–21.

Abahussein AA, Al-zayir AA, Mostafa WZ, Okoro AN: Epidermolysis bullosa in the Eastern Province of Saudi Arabia. Int J Dermatol 1993, 32: 579–81.

Horn HM, Priestley GC, Eady RAJ, Tidman MJ: The prevalence of epidermolysis bullosa in Scotland. Br J Dermatol 1997, 136: 560–4. 10.1046/j.1365-2133.1997.d01-1235.x

Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, Heagerty A, Hintner H, Jonkman MF, McGrath J, McGuire J, Moshell A, Shimizu H, Tadini G, Utitto J: Revised classification system for inherited epidermolysis bullosa: report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000, 42: 1051–66. 10.1016/S0190-9622(00)90302-5

Uitto J, Eady RAJ, Fine J-D, Feder M, Dart J: The DEBRA international visioning/consensus meeting on epidermolysis bullosa: summary and recommendations. J Invest Dermatol 2000, 114: 734–7. 10.1046/j.1523-1747.2000.00930.x

Horn HM, Tidman MJ: The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 2002, 146: 267–74. 10.1046/j.1365-2133.2002.04607.x

Lin GT, Chen SK, Liu CS, Wang WH: Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa. J Formos Med Assoc 2000, 99: 693–7.

Fine J-D, Johnson LB, Weiner M, Stein A, Cash S, DeLeoz J, Devries DT, Suchindran C, National Epidermolysis Bullosa Registry: Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the national epidermolysis bullosa registry. AM J Kidne D is 2004, 44: 651–60. 10.1053/j.ajkd.2004.06.007

Lehman TD, Morgan TK, Lehman NL, Vogel H, McGuire JS: Recessive dystrophic epidermolysis bullosa associated with mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy of the pons. Br J Dermatol 2004, 151: 1266–9. 10.1111/j.1365-2133.2004.06267.x

Orlando RC, Bozymski EM, Briggaman RA, Bream CA: Epidermolysis bullosa: gastrointestinal manifestations. Ann Intern Med 1974, 81: 203–6.

Gryboski JD, Touloukian R, Campanella RA: Gastrointestinal manifestations of epidermolysis bullosa in children. Arch Dermatol 1988, 124: 746–52. 10.1001/archderm.124.5.746

Travis SPL, McGrath JA, Turnbull AJ, Schofield OM, Chan O, O'Connor AF, Mayou B, Eady RA, Thompson RP: Oral and gastrointestinal manifestations of epidermolysis bullosa. Lancet 1992, 340: 1505–6. 10.1016/0140-6736(92)92759-9

Haynes L, Atherton D, Clayden G: Constipation in epidermolysis bullosa: successful treatment with a liquid fiber-containing formula. Pediatr Dermatol 1997, 14: 393–6.

Thông tin
Thông tin xuất bản

Springer Science and Business Media LLC

Tập 6 Số 1

Thông tin tác giả