Abstract • Background and Methods.— The concomitant occurrence of the two rare conditions of pyloric atresia (PA) and inherited epidermolysis bullosa (EB) is not as rare as would be expected. We collected 41 case reports in the world literature and add a personal case in which EB was investigated with modern methods and found to be a GB3-positive/non-Herlitz junctional variant. Observations.— Our review of the PA-EB association discloses that it is an autosomal recessive inherited entity in which EB is of the junctional EB (JEB) subtype and PA is a primary manifestation rather than a scarring process secondary to JEB. The disease is thus better called "PA-JEB." Patients with the PA-JEB syndrome present, not uncommonly, with erosions and/or subepithelial cleavage in the respiratory, gastrointestinal, and urinary tracts. In addition, certain facultative features are unique to PA-JEB, ie, obstruction of the ureterovesical junction and high incidence of a peculiar form of aplasia cutis congenita. Conclusion.— The GB3 monoclonal antibody was found normally expressed in three of three cases, excluding the Gravis-Herlitz variant, in spite of an unmatching EB phenotype in one case. Further studies are needed to assess which of the JEB varieties are present in the PA-JEB syndrome.(Arch Dermatol. 1992;128:1083-1086) References 1. Swinburne L, Kohler HG. Symmetrical congenital skin defects in sibs . Arch Dis Child. 1968;43:499. 2. Teran AC, Cobo BJ, Guijarro MG, Casillas JG, Merchan AS, Verdun MLS. Atresia de piloro en un recien nacido con epidermolisis ampollosa . Bol Catedra Pediatr (Madrid) . 1972;16:47-78. 3. Fine JD. Changing clinical and laboratory concepts in inherited epidermolysis bullosa . Arch Dermatol. 1988;124:523-526.Crossref 4. Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa . J Am Acad Dermatol. 1991;24:119-135.Crossref 5. Schofield OMV, Fine JD, Verrando P, Heagerty AHM, Ortonne JP, Eady RAJ. GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicentre study . J Am Acad Dermatol. 1990;23:1078-1083.Crossref 6. Fine JD. 19-DEJ-1, a monoclonal antibody to the hemidesmosome-anchoring filament complex, is the only reliable immunohistochemical probe for all major forms of junctional epidermolysis bullosa . Arch Dermatol. 1990;126:1187-1190.Crossref 7. Vivona G, Frontali M, Di Nunzio ML, Vendemiati A. Aplasia cutis congenita and/or epidermolysis bullosa . Am J Med Genet. 1987; 26:497-502.Crossref 8. Muller H, Bode H, Krone C, Anton-Lamprecht I, Orlowska M. Herlitz-Syndrom und `Pylorusatresie.' Helv Paediatr Acta . 1988;43: 457-466. 9. Rilke F, Riviera LC. Aplasia cutis congenita: descrizione di un caso in prodotto incestuoso . Folia Hered Pathol (Milano) . 1964;14: 35-48. 10. Pearson RW, Potter B, Strauss F. Epidermolysis bullosa hereditaria letalis . Arch Dermatol. 1974;109:349-355.Crossref 11. Briggaman RA. Hereditary epidermolysis bullosa with special emphasis on newly recognized syndromes and complications . Dermatol Clin. 1983;1:263-280. 12. DeGroot WG, Postuma R, Hunger AGW. Familial pyloric atresia associated with epidermolysis bullosa . J Pediatr. 1978;92: 429-431.Crossref 13. Chang CH, Perrin EV, Bove KE. Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis . Pediatr Pathol. 1983;1:449-457.Crossref 14. Cetin N, Patiroglu T, Soyuer U. Epidermolysis bullosa associated with pyloric obstruction . Turk J Pediatr. 1987;29:253-257. 15. Holbrook KA. Extracutaneous epithelial involvement in inherited epidermolysis bullosa . Arch Dermatol. 1988:124:726-731.Crossref 16. Rosenberg D, Dodat H, Cottin X, Cambazard F, Chappuis JP, Salle B. Atteinte du tractus urinaire au cours du syndrome epidermolyse bulleuse congenitale-atresie du pylore . Arch Fr Pediatr. 1987;44:867-870. 17. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification . J Am Acad Dermatol. 1986;14:646-660.Crossref 18. Nazzaro V, Nicolini U, Berti E, et al. Prenatal diagnosis of GB3-positive junctional epidermolysis bullosa associated with pyloric atresia . In: Priestley GC, Tidman MJ, Weiss JB, Eady RAJ, eds. Epidermolysis Bullosa: A Comprehensive Review of Classification, Management and Laboratory Studies . Crowthorne, United Kingdom: Dystrophic Epidermolysis Bullosa Research Association; 1990:127-129. 19. LaCour JP, Hoffman P, Bastiani-Griffet F, Boutte P, Pisani A, Ortonne JP. Lethal junctional epidermolysis bullosa with normal expression of EM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? Eur J Pediatr. In press.
Archives of Dermatology – American Medical Association
Published: Aug 1, 1992
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