Gastric outlet obstruction and epidermolysis bullosa

Journal of the American Academy of Dermatology

Volumn 36, Issue 2 SUPPL., 1997, Pages 304-310

  Shaw, D W ^a   Fine, J D ^a   Piacquadio, D J ^a   Greenberg, M J ^a   Wang Rodriguez, J ^a   Eichenfield, L F ^a  

^a UCSD MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA; GENE MUTATION; GRANULATION TISSUE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; PRIORITY JOURNAL; PYLORUS STENOSIS; SKIN APLASIA; STOMACH OBSTRUCTION;

EID: 0031041675     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0190-9622(97)80404-5     Document Type: Article

References (72)

1. J-D Fine EA Bauer RA Briggaman Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry J Am Acad Dermatol 24 1991 119 135
2. G Defawe B Le Marec J Chevrant-Breton Atrésie du pylore et épidermolyse bulleuse: apropos d'un nouveau cas Arch Fr Pediatr 38 1981 511 512
3. JS Korber MJ Glasson Pyloric atresia associated with epidermolysis bullosa J Pediatr 90 1977 600 601
4. GG Lestringant SR Akel KI Qayed The pyloric atresia junctional epidermolysis bullosa syndrome: report of a case and review of the literature Arch Dermatol 128 1992 1083 1086
5. N Cetin T Patiroglu Epidermolysis bullosa associated with pyloric obstruction Turk J Pediatr 29 1987 253 257
6. MJ Bull AL Norins DD Weaver Epidermolysis bullosa-pyloric atresia: an autosomal recessive syndrome Arn J Dis Child 137 1983 449 451
7. N Egan R Ward PM Olmstead Junctional epidermolysis bullosa and pyloric atresia in two siblings Arch Dermatol 121 1985 1186 1188
8. M El Shafie GL Stidham CH Klippel Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings J Pediatr Surg 14 1979 446 449
9. V Nazzaro U Nicolini L De Luca Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia J Med Genet 27 1990 244 248
10. MS Rosenbloom M Ratner Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings J Pediatr Surg 22 1987 374 376
11. WG De Groot R Postuma AGW Hunter Familial pyloric atresia associated with epidermolysis bullosa J Pediatr 92 1978 429 431
12. L Swinburne HG Kohler Symmetrical congenital skin defects in sibs Arch Dis Child 43 1968 499
13. PA Dennery PT Conover T Kahn Premature twins with skin lesions and gastric outlet obstruction J Pediatr 120 1992 645 651
14. CR Abramowsky E Gilbert-Barness Pathological cases of the month Am J Dis Child 147 1993 207 208
15. M Weber Hemidesmosome deficiency of gastrointestinal mucosa, demonstrated in a child with Herlitz syndrome and pyloric atresia Acta Derm Venereol (Stockh) 67 1987 360 362
16. FA Peltier EH Tschen SS Raimer Epidermolysis bullosa letalis associated with congenital pyloric atresia Arch Dermatol 117 1981 728 731
17. CH Chang EV Perrin Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis Pediatr Pathol 1 1983 449 457
18. MC Garcia Valles A Martinez Caro A Hemandez Orgaz Atresia del piloro y epidermolisis ampollosa ¿una coincidencia? An Esp Pediatr 10 1977 745 750
19. TG Berger RL Detlefs CF Donatucci Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease Pediatr Dermatol 3 1986 130 134
20. O Eklöf K Parkkulalnen Epidermolysis bullosa dystrophica with urinary tract involvement J Pediatr Surg 19 1984 215 217
21. D Rosenberg H Dodat X Cotfin Atteinte du Iractus urinaire au cours du syndrome épidermolyse bulleuse congénitale-atrésie du pylore Arch Fr Pediatr 44 1987 867 870
22. AH Hayashi CA Galliani DA Gillis Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature J Pediatr Surg 26 1991 1341 1345
23. CR Dolan LT Smith VP Sybert Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein Am J Med Genet 47 1993 395 400
24. F Vidal D Aberdam C Miquel Integrin 134 mutations associated with junctional epidermolysis bullosa with py- loric atresia Nat Genet 10 1995 229 234
25. C Reitelman KA Burbige ME Mitchell The urological manifestations of epidermolysis bullosa J Urol 136 1986 1320 1322
26. R Carmi S Sofer M Karplus Aplasia cuffs congenita in two sibs discordant for pyloric atresia Am J Med Genet 11 1982 319 328
27. JAL Cowton TJ Beattie AAM Gibson Epidermolysis bullosa in association with aplasia cuffs congenita and pyloric atresia Acta Paediatr Scand 71 1982 155 160
28. PM Nair VG Chellam K Sabarinathan Epidermolysis bullosa-pyloric atresia syndrome Indian J Pediatr 56 1989 283 286
29. G Vivona M Fmntali ML Di Nunzio Aplasia cuffs congeuita and/or epidermolysis bullosa Am J Med Genet 26 1987 497 502
30. EY Adashi FJ Louis M Vasquez An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarfing and pyloric atresia J Pediatr 96 1980 443 446
31. A Marras Epidermolysis bullosa and amniotic bands Am J Med Genet 19 1984 815 817
32. R Achiron O Hamiel-Pinchas S Engelberg Aplasia cuffs congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography Prenat Diagn 12 1992 765 771
33. MD Valari RJ Phillips BD Lake Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients Br J Dermatol 133 1995 732 736
34. JP Lacour P Hoffman F Bastiani-Griffet Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? Eur J Pediatr 151 1992 252 257
35. H Shimizu J-D Fine K Suzumori Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syn- drome J Am Acad Dermatol 31 1994 429 433
36. T Ishigami K Akaishi S Nishirnura A case of py- loric atresia associated with junctional epidermolysis bullosa Eur J Pedriatr 149 1990 306 307
37. Z Nazir ZB Attar F Moazam Congenital pyloric atresia and epidermolysis bullosa JPMA J Pak Med Assoc 41 1991 25 26
38. M Orense JB Garcia Hemandez C Celorio Pyloric atresia associated with epidermolysis bullosa Pediatr Radiol 17 1987 435
39. PV Pedersen Pyloric atresia and epidermolysis bullosa J Pediatr 91 1977 852 853
40. ME Roman Ortiz JD Gutierrez Sanchez J Rodriguez Caamaño Sindrome de atlesia pilórica-epidermolisis bullosa congéuita: descripción de un nuevo caso An Esp Pediatr 35 1991 419 421
41. A Meldgaard Lund T Karlsmark T Kobayasi Protein losing enteropathy in a child with junctional epidermolysis bullosa and pyloric atresia Acta Derm Venereol 75 1995 59 61
42. S Çetinkursun H Öztürk B Celasun Epidermolysis bullosa associated with pyloric, esophageal, and anal atlesia: a case report J Pediatr Surg 30 1995 1477 1478
43. CC Ng FC Hung CS Hsieh Epidermolysis bullosa letalis with pyloric atresia in an infant J Formos Med As- soc 95 1996 61 65
44. NJ Leschot PE Treffers MJ Becker-Bloemkolk Severn congenital skin defects in a newborn Eur J Obstet Gynecol Reprod Biol 10 1980 381 388
45. JR Zim RA Scott JM Aronian Gastric outlet obstruction and gastric infarct in junctional epidermolysis bullosa Pediatr Dermatol 12 1995 174 177
46. RE Melhem G Salem H Mishalany Pyloro-duodenal atresia: a report of three families with several similarly affected children Pediatr Radiol 3 1975 1 5
47. PJ Honig M Yoder M Ziegler Acquired pyloric obstruction in a patient with epidermolysis hnllosa letalis J Pedi- atr 102 1983 598 600
48. NW Thompson W Parker S Schwartz Congenital pyloric atresia Arch Surg 97 1968 792 796
49. J-D Fine LB Johnson H Tien The national epider- molysis bullosa (EB) registry-differences in frequencies of selected gastrointestinal manifestations and cancers across major disease types J Invest Dermatol 102 1994 618
50. CM Moore Congenital gastric outlet obstluction J Pediatr Surg 24 1989 1241 1246
51. Y Kodama M Kawamoto K Iwashita Congenital pyloric atresia-a repolt on a successfully treated case and existing research J Nippon Med Sch 53 1986 409 415
52. M Müller R Morger J Engert Pyloric atresia: report of four cases and review of the literature Pediatr Surg hat 5 1990 276 279
53. MI Rowe JA O'Neill JL Grosfeld Essentials of pediatric surgery 486 1995 Mosby St. Louis 501 502
54. WP Faulk BL Hsi CJG Yeh Epidermolysis bullosa letalis: an immunogenetic disease of extraembryouic ectoderm? Am J Obstet Gynecol 158 1988 150 157
55. CF Donatucci TG Berger GE Deshon Management of urinary tract in children with epidermolysis bullosa Urol- ogy 40 1992 137 142
56. L Schachner GS Lazarus H Dembitzer Epidermolysis bullosa hereditaria letalis-pathology, natural history and therapy Br J Dermatol 96 1977 51 58
57. MS Cardwell Polyhydramnios: a review Obstet Gynecol Surv 42 1987 612 617
58. LO Lubchenco C Hansman E Boyd Intrauterine growth in length and head circumference as estimated from live births at gestational ages from 26 to 42 weeks Pediatrics 37 1966 403 408
59. IJ Frieden Aplasia cutis congenita: a clinical review and proposal for classification J Am Acad Dermatol 14 1986 646 660
60. O Doi K Aoyama S Mori A case of epidermolysis bullosa dystrophicans with congenital esophageal atresia J Pedialr Surg 21 1986 943 945
61. OMV Schofield J-D Fine P Verrando GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study J Am Acad Dermatol 23 1990 1078 1083
62. RE Burgeson M Chiquet R Deutzmann A new nomenclature for laminins Matrix Biol 14 1994 209 211
63. MP Marinkovich P Verrando DR Keene Basement membrane proteins kalinin and nicein are structurally and immunologically identical Lab Invest 69 1993 295 299
64. L Pulkkinen AM Christiano T Airenne Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa Nat Genet 6 1994 293 297
65. L Pulkkinen AM Christiano D Gerecke A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa Genomics 24 1994 357 360
66. S Kivirikko JA McGrath C Baudoin A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa Hum Mol Genet 4 1995 959 962
67. SG Gil TA Brown MC Ryan Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kali- nin and integrin β4 that inhibit hemidesmosome formation J Invest Dermatol 103 1994 31S 38S
68. RJ Phillips JD Aplin BD Lake Antigenic expression of integrin α6β4 in junctional epidermolysis bullosa Histopathology 24 1994 571 576
69. J-D Fine V Quaranta Y Horiguchi Relative expression of four hemidesmosome-associated proteins in junctional epidermolysis bullosa, a disease of epithelial dysadhesion with known abnormal hemidesmosomes J Cell Biol 115 1991 134
70. MF Jonkman MCJM de Jong K Heeres Expression of integrin α6β4 in junctional epidermolysis bullosa J Invest Dermatol 99 1992 489 496
71. H Shimizu K Suzumori N Hatta Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome: application for prenatal diagnosis in a family at risk for recurrence Arch Dermatol 132 1996 919 925
72. TA Brown SG Gil VP Sybert Defective integrin α6β4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia J Invest Dennatol 107 1996 384 391