Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia

Pediatric Dermatology

Volumn 14, Issue 5, 1997, Pages 359-362

  Puvabanditsin, Surasak ^a,c   Garrow, Eugene ^a   Samransamraujkit, Rujipat ^c   Lopez, Louis Alfonso ^c   Lambert, W Clark ^b  

^a UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^b RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^c JERSEY CITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLADDER OBSTRUCTION; CASE REPORT; CONGENITAL SKIN DISEASE; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA SIMPLEX; HUMAN; HYDRAMNIOS; HYDRONEPHROSIS; HYDROURETER; INFANT; MALE; PRIORITY JOURNAL; URETER OBSTRUCTION; VOMITING;

EID: 0030882931     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1525-1470.1997.tb00981.x     Document Type: Article

References (18)

1. Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol 1970;101:78-81.
2. Wojnarowska FT, Eady RAJ, Wells RS. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases. Br J Dermatol 1983; 108:477-483.
3. Butler DF, Berger TG, James WD, et al. Bart's syndrome: microscopic, ultrastructural, and immunofluorescent mapping features. Pediatr Dermatol 1986;3:113-118.
4. Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Dermatoi Venereol 1979;59:533-537.
5. Lestringant GG, Akel SR, Qayed KI. The pyloric atresiajunctional epidermolysis bullosa syndrome. Arch Dermatol 1992;128:1083-1086.
6. 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.
7. Hurwitz S. Clinical pediatric dermatology, 2nd ed. Philadelphia: WB Saunders. 1993:432-435.
8. Bart BJ, Gorlin RJ, Anderson VE, et al. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. Arch Dermatol 1966;93:293-304.
9. Kanzler MH, Smoller B, Woodley DT. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Dermatol 1992;128:1087-1090.
10. Zelickson B, Matsumura K, Kist D, et al. Bart's syndrome: ultrastructure and genetic linkage. Arch Dermatol 1995; 131:663-668.
11. Hayashi AH, Galliani CA, Gillis DA. Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature. J Pediatr Surg 1991;26:1341-1345.
12. Chang CH, Perrin EV, Bove KE. Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis. Pediatr Pathol 1983;1:449-457.
13. Cetinkursun, Ozturk H, Celasun B, et al. Epidermolysis bullosa associated with pyloric, esophageal, and anal atresia: a case report. J Pediatr Surg 1995;30:1477-1478.
14. Cowton JAL, Beattie TJ, Gibson AAM, et al. Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia. Acta Pediatr 1982;71:155-160.
15. Vidal F, Aberdam D, Miguel C, et al. Integrin B4 mutatlions associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995;10:229-234.
16. Pulkkinen L, Christiano AM, Airenne T, et al. Mutations in the v2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 1994; 6:293-298.
17. Rodeck CH. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1980;1:949-952.
18. McGrath JA, McMillan JR, Dunnil MGS, et al. Genetic basis of lethal junctional epidermolysis bullosa in affected fetus: implication for prenatal diagnosis in one family. Prenatal Diagnos 1995;15:647-654.