Abstract
Junctional epidermolysis bullosa is an autosomal recessive disorder characterized by the formation of blisters at the lamina lucida, an electron-lucent zone located between the basal cell plasma membrane and the lamina densa (Fig. 8.1). Like other forms of epidermolysis bullosa (EB), several subtypes are recognized (Table 8.1). These are differentiated mainly on the basis of clinical manifestations, and it is unclear if they represent varying expressivity of a single defective gene, or diseases caused by abnormalities at different genetic loci. Staining with monoclonal antibodies directed at various basement membrane zone antigens is useful in characterizing certain forms of junctional EB,1 and this is topic is discussed in detail in Chapter 3. Abnormalities of hemidesmosomes have been observed in skin biopsy specimens from patients with junctional EB, especially those with the “letalis” form.2 Reduced numbers of morphologically ill-defined “hemidesmosomelike structures” have been observed in cultured keratinocytes obtained from junctional EB patients.3 In another study, cultured keratinocytes obtained from three patients with a nonletalis type of junctional EB showed altered structural, adhesive, and functional abnormalities.4 Compared with normal keratinocytes, junctional EB cells showed elongated refractile appearance, diminished cell-stratum adhesion, and were slow growing.4 A condition similar to junctional EB has been described in the toy poodle.5
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References
Fine JD, Bauer EA, Briggaman RA, et al. 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. 1991;24:119–135.
Tidman MJ, Eady RAJ. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol. 1986; 86: 51–56.
Chapman SJ, Leigh IM, Tidman MJ, Eady RAJ. Abnormal expression of hemidesmosome-like structures by junctional epidermolysis bullosa keratino-cytes in vitro. Br J Dermatol. 1990; 123:137–144.
Krueger JG, Lin AN, Leong I, Carter DM. Junctional epidermolysis bullosa keratinocytes in culture display adhesive, structural and functional abnormalities. J Invest Dermatol. 1991;97:849–861.
Dunstan RW, Sills RC, Wilkinson JE, Palier AS, Hashimoto KH. A disease resembling junctional epidermolysis bullosa in a toy poodle. Am J Dermatopathol. 1988;10:442–447.
Herlitz H. Kongenitaler nicht syphilitischer pemphigus. Eine übersicht nebst beschreibung einer neuen krankheitsform (Epidermolysis bullosa heredihria letalis). Ach Paediat. 1935;17:315–371.
Schaffer G. Two cases of epidermolysis bullosa hereditaira letalis. Acta Derm Venereol (Stockh). 1951; 31:704–709.
Bergenholtz A, Olsson O. Epidermolysis bullosa hereditaria letalis: a survey of the literature and report of 11 cases. Acta Derm Venereol (Stockh). 1968; 48: 220–241.
Calnan CD. Epidermolysis bullosa letalis. Great Ormond Street J. 1954-55;8: 113–117.
Silver HK. Epidermolysis bullosa hereditaria letalis: report of a case surviving for two and a half years. Arch Dis Child. 1957;32:216–219.
Waldrigues A, Pedro R de J, Gross C. Epidermolysis bullosa hereditaria letalis [letter]. Lancet. 1972;2:1372.
Hidano A. Epidermolysis bullosa hereditaria in two sisters: discussion of the Herlitz type. Pediatr Dermatol Mod Probi Paediatr. 1975; 17:93–94.
Kahn S, Trieger N. Epidermolysis bullosa hereditaria letalis: a case report with special emphasis on oral manifestations. J. Oral Med. 1976; 31:32–35.
Lenstrup J. Lethal herditary bullous epidermolysis: survey, and a typical case. Acta Paediatr. 1947;34:263–278.
Henderson AT. Epidermolysis bullosa hereditaria letalis: report of a case failing to respond to cortisone. J Pediatr. 1955; 46:186–191.
Lewis IC, Steven EM, Farquhar JW. Epidermolysis bullosa in the newborn. Arch Dis Child. 1955;30:277–284.
Gilbert EF. Epidermolysis bullosa. Clin Proc Children’s Hosp. District Columbia. 1956;12:115–119.
Rossett M. Epidermolysis bullosa of the newborn. Can Med Assoc J. 1956; 75:507–509.
Fattah AA. Epidermolysis bullosa hereditaria letalis (Herlitz). Dermatologica. 1966;133:475–481.
Roberts MH, Howell DRS, Bramhall JL, Reubner B. Epidermolysis bullosa letalis: report of three cases with particular reference to the histopathology of the skin. Pediatrics. 1960;25:283–290.
Madhaven M, Aurora AL, Puri RD. Epidermolysis bullosa letalis: report of a case. Indian J Pediatr. 1977; 44:192–194.
Davidson LT. Hereditary epidermolysis bullosa: report of a case with a resume of the literature. Am J Dis Child. 1940; 59:371–378.
Black RA, Wilhelm E, Gilbert C, White CJ. Epidermolysis bullosa in the newborn. J Am Med Assoc. 1945; 129:734–736.
Walther T. Epidermolysis bullosa hereditaria letalis: a review and report of two own cases. Ann Ped Int Rev Pediatr. 1953; 180:382–392.
Frank DJ, Kern WH. Epidermolysis bullosa: a case report. Ohio State Med J. 1954;50:679–680.
Tamayo L, Ruiz-Maldonado R. Epidermolysis bullosa: clinical aspects. Mod Probi Paediatr. 1975; 17:77–84.
Carnevale A, Ruiz-Maldonado R, Diez JF. Epidermolysis bullosa: a study of 22 Mexican cases. Mod Probi Paediatr. 1975; 17:85–92.
Lowe Jr LB. Hereditary epidermolysis bullosa. Arch. Dermatol. 1967;95:587–595.
Sofatzis JA. Blistering and scaling dermatoses [letter]. J. Pediatr. 1971; 79:341.
Pearson RW. Studies of the pathogenesis of epidermolysis bullosa. J Invest Dermatol. 1962;39:551–575.
Esterly NB, Hruby M. Epidermolysis bullosa letalis in two brothers. Birth Defects: Original Article Series. 1974;X: 155–157.
Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullos hereditaria letalis. Acta Derm Venereol (Stockh). 1979;59:533–537.
Heijima M, Inoue S, Ogata K. A fatal case of junctional epidermolysis bullosa (Herlitz-Pearson). J Dermatol. 1981; 8:483–486.
De Jong MCJM, Meijer P, Van Voorst Vader PC, Hollema H. Junctional epidermolysis bullosa letalis. Br J Dermatol. 1990; 123:681–682.
Pearson RW, Potter B, Strauss F. Epidermolysis bullosa hereditaria letalis: clinical and histologic manifestations and course of the disease. Arch Dermatol. 1974;109:349–355.
Cross HE, Wells RS, Esterly JR. Inheritance in epidermolysis bullosa letalis. J Med Genet. 1968;5:189–196.
Schachner L, Lazarus GS, Dembitzer H. Epidermolysis bullosa hereditaria letalis: pathology, natural history and therapy. Br J Dermatol. 1977;96:51–58.
Maddison TG, Barter RA. Epidermolysis bullosa hereditaria letalis. Arch Dis Child. 1961;36:337–339.
Leland LS, Hirschl D. Epidermolysis bullosa hereditaria letalis in newborn twins: report of two case with failure to respond favourably to cortisone. Am J Dis Child. 1954;87:321–327.
Aurora AL, Madhavan M, Rao S. Ocular changes in epidermolysis bullosa letalis. Am J Ophthalmol. 1975; 79:464–470.
Lamb JH, Halpert B. Epidermolysis bullosa of the newborn. Arch Derm. Syphilol. 1947;55:369–374.
Arwill T, Bergenholtz A, Olsson O. Epidermolysis bullosa hereditaria. IV: Histologic changes of the oral mucosa in the polydysplastic dystrophic and the letalis form. Odontologisk Revy. 1965; 16:101–111.
Arwill T, Bergenholtz A, Thilander H. Epidermolysis bullosa hereditaria. V: The ultrastructure of oral mucsoa and skin in four cases of the letalis form. Acta Pathol Microbiol Scand. 1968; 74:311–324.
Hruby MA, Esterly NB. Anemia in epidermolysis bullosa letalis. Am J Dis Child. 1973;125:696–699.
Hiejima M, Inoue S, Ogata K. A fatal case of junctional epidermolysis bullosa (Herlitz-Pearson). J Dermatol. 1981; 8:483–486.
Oakley CA, Wilson N, Ross JA, Barneston R StC. Junctional epidermolysis bullosa in two siblings: clinical observations, collagen studies and electron microscopy. Br J Dermatol. 1984; 111:533–543.
El Shafie M, Stidham GL, Klippel CH, Katzman GH, Weinfeld IJ. Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings. J Pediatr Surg. 1979; 14:446–449.
Adashi EY, Louis FJ, Vasquez M. An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia. J Pediatr. 1980; 96:443–446.
Peltier FA, Tschen EH, Raimer SS, Kuo T-T. Epidermolysis bullosa letalis associated with congenital pyloric atresia. Arch Dermatol. 1981; 117:728–731.
Chang C-H, Perrin EV, Bove KE. Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis. Pediatr Pathol. 1983; 1:449–457.
de Groot WG, Postuma R, Hunter AGW. Familial pyloric atresia associated with epidermolysis bullosa. J Pediatr. 1978;92:429–430.
Honig P, Yoder M, Ziegler M. Acquired pyloric obstruction in a patient with epidermolysis bullosa letalis. J Pediatr. 1983; 102:598–600.
Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyrloric atresia. J Med Genet. 1990;27:244–248.
Swinburne LM, Kohler HG. Familial pyloric atresia associated with epidermolysis bullosa. J Pediatr. 1979; 44:162.
Cambazard F, Kanitakis J, Thivolet J. Junctional epidermolysis bullosa associated with congenital pyloric atresia. In: Wilkinson DS, Mascaro JM, Orfanos CE, eds. Clinical Dermatology, The CMD Case Collection. Stuttgart: Schattauer; 1987:18–19.
Berger TG, Detlefs RL, Donatucci CF. Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. Pediatr Dermatol. 1986;3:130–134.
Bull MJ, Norins AL, Weaver DD, Weber T, Mitchell M. Epidermolysis bullosa —Pyloric atresia: an autosomal recessive syndrome. Am J Dis Child. 1983; 137: 449–451.
Egan N, Ward R, Olmstead PM, Marks Jr JG. Junctional epidermolysis bullosa and pyloric atresia in two siblings. Arch Dermatol. 1985; 121:1186–1188.
Reitelman C, Burbige KA, Mitchell M, Hensle TW. The urological manifestations of epidermolysis bullosa. J Urol. 1986; 136:1320–1322.
Korber JS, Glasson MJ. Pyloric atresia associated with epidermolysis bullosa. J Pediatr. 1977;90:600–601.
Pedersen PV, Hertel J. Pyloric atresia in epidermolysis bullosa. J Pediatr. 1977; 91:852–853.
Arwill T, Bergenholtz A, Olsson O. Epidermolysis bullosa hereditaria. III. A histological study of changes in teeth in the polydysplastic dystrophic and lethal forms. Oral Surg Oral Med Oral Pathol. 1965; 19:723–744.
Brain EB, Wigglesworth JS. Developing teeth in epidermolysis bullosa hereditaria letalis: a histological study. Br Dent J. 1968; 124:255–260.
Gardner DG, Hudson CD. The disturbances in odontogenesis in epidermolysis bullosa hereditaria letalis. Oral Surg. 1975;40:483–493.
Glossop LP, Michaels L, Bailey CM. Epidermolysis bullosa letalis in the larynx causing acute respiratory failure: a case presentation and review of the literature. Int J Pediatr Otorhinolaryngol. 1984;7:281–288.
Gonzalez C, Roth R. Laryngotracheal involvement in epidermolysis bullosa. Int J Pediatr Otorhinolaryngol. 1989;17:305–311.
Gans LA. Eye lesions of epidermolysis bullosa: clinical features, management and prognosis. Arch Dermatol. 1988; 124:762–764.
Hruby MA, Esterly NB. Epidermolysis bullosa hereditaria letalis [letter]. Arch Dermatol. 1975; 111:527–528.
Turner TW. Two cases of junctional epidermolysis bullosa (Herlitz-Pearson). Br J Dermatol. 1980;102:97–107.
Fine J-D. Epidermolysis bullosa: clinical aspects, pathology, and recent advances in research. Int J Dermatol. 1986;25:143–157.
Faulk WP, Hsi B-L, Yeh C-JG, McIntyre JA, Stevens PJ. Epidermolysis bullosa letalis: an immunogenetic disease of extraembryonic ectoderm? Am J Obstet Gynecol 1988;158:150–157.
Rodeck CH, Eady RAJ, Gosden CM. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet. 1980; 1:949–952.
Haegerty AHM, Eady RAJ, Kennedy AR, et al. Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3. monoclonal antibody. Br J Dermatol. 1987;117:271–275.
Loftberg L, Anton-Lamprecht I, Michaelsson G, Gustavii B. Prenatal exclusion of Herlitz syndrome by electron microscopy of fetal skin biopsies obtained at fetoscopy. Acta Derm. Venereol (Stockh). 1983;63:185–189.
Haegerty AHM, Kennedy AR, Gunner DB, Eady RAJ. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol. 1986;86:603–605.
Hausser I, Anton-Lamprecht I, Gustavii B. Prenatal diagnosis of junctional epidermolysis bullosa Herlitz type [letter]. Lancet. 1989;2:1035–1036.
Eady RAJ, Schofield OMV, Nicolaides KH, Rodeck CH. Prenatal diagnosis of junctional epidermolysis bullosa [letter]. Lancet. 1989;2:1453.
Hintner H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Dermatol. 1982; 118:375–384.
Hashimoto I, Schnyder UW, Anton-Lamprecht I. Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica. 1976; 152:72–86.
Schnyder UW, Anton-Lamprecht I. Zur Klinik der epidermolysen mit junktionaler Blasenbildung (English abstract). Dermatologica. 1979; 159:402–406.
Braun-Falco O, Plewig G, Wolff HH, Winkelman RK. Vesicular and Bullous Diseases. In: Dermatology. Springer-Verlag, Berlin. 1991, p 473.
Palier AS, Fine J-D, Kaplan S, Pearson RW. The generalized atrophic benign form of junctional epidermolysis bullosa: experience with four patients in the United States. Arch Dermatol. 1986; 122:704–710.
Hacham-Zadeh S. Benign junctional epidermolysis bullosa in three related Moroccan families [letter]. J Am Acad Dermatol. 1986; 14:508–509.
Foldes C, Wallach D, Aubiniere E, Vignon-Pannamen M-D, Cottenot F. Generalized atrophic benign form of junctional epidermolysis bullosa. Dermatologica. 1988;176:83–90.
Grubauer G, Hintner H, Klein G, Fritsch P. Erworbene, flachige Riesen-Navuszellnavi bei generalisierter, atrophisierender, benigner Epidermolysis bullosa [English abstract]. Hautarzt. 1989;40:523–526.
Pellicano R, Fabrizi G, Cerimele D. Multiple keratoacanthomas and junctional epidermolysis bullosa. Arch Dermatol. 1990; 126:305–306.
Schofield OMV, Eady RAJ. Generalized atrophic benign epidermolysis bullosa. In: Priestley GC, Tidman MJ, Weiss JB, Eady RAJ, eds. Epidermolysis Bullosa: A Comprehensive Review of Classification, Management and Laboratory Studies. Crowthorne, England: Dystrophic Epidermolysis Bullosa Research Association; 1990:97–102.
Judge M, Phillips R, Blake B, Harper JI. Junctional epidermolysis bullosa in two brothers: survival and intrafamilial variation. Br J Dermatol. 1991; 125(suppl 38): 43–44.
Yamada Y, Dekio S, Jidoi J, Ishimoto T, Yoshioka T. Epidermolysis bullosa atrophicans generalisata mitis: report of a case with renal dysfunction. J. Dermatol. 1990;17:690–695.
Mikio I, Mamoru K, Hiroshi H, Yoichiro S. Junctional epidermolysis bullosa with urethral stricture. Dermatologica. 1987; 175; 244–248.
Gedde-Dahl Jr T, Anton-Lamprecht I. Epidermolysis bullosa. In: Emery AEH, Rimion DL, eds. Principles and Practice of Medical Genetics. Edinburgh: Churchill-Livingstone; 1983:672–687.
Kero M. Epidermolysis bullosa in Finland: clinical features, morphology and relation to collagen metabolism. Acta Derm. Venereol (Stockh). 1984; suppl 110:1–51.
Kero M, Palotie A, Peltonen L. Collagen metabolism in two rare forms of epidermolysis bullosa. Br J Dermatol. 1984; 110:177–184.
Kero M. Occurence of epidermolysis bullosa in Finland. Acta Derm Venereol (Stockh). 1984;64:57–62.
Tidman MJ, Eady RAJ, Marsden RA. Non-lethal junctional epidermolysis bullosa. Br J Dermatol. 1985; 113(suppl 29): 83.
Haegerty AHM, Tidman MJ, Bor S, Eady EAJ. Non-lethal junctional epidermolysis bullosa in two adult sisters. J R Soc Med. 1985; 78(suppl. 11): 32–33.
Eady RAJ, Tidman MJ. Junctional epidermolysis bullosa. In: Wojnarowski F, Briggaman RA, eds. Management of Blistering Diseases. New York: Raven Press; 1990:213–223.
Goodwin P, Eady RAJ. A case of? epidermolysis bullosa. Clin Exp Dermatol. 1977;2:409–412.
Parker SC, Schofield OMV, Black MM, Eady RAJ. Non-lethal junctional epidermolysis bullosa complicated by squamous cell carcinoma. In: Priestley GC, Tidman MJ, Weiss JB, Eady RAJ, eds. Epidermolysis Bullosa: A Comprehensive Review of Classification, Management and Laboratory Studies. Crowthorne, England: Dystrophic Epidermolysis Bullosa Research Association; 1990: 103–106.
Monk BE, Pembrook AC. Epidermolysis bullosa with squamous cell carcinoma. Clin Exp Dermatol. 1987; 12:373–374.
Parker SC, Eady RAJ, Black MM. Junctional epidermolysis bullosa and squamous cell carcinoma. Br J Dermatol. 1988; 119(suppl 33): 107–108.
Lichtenwald DJ, Hann W, Sauder DN, Jakubovic HR, Rosenthal D. Pretibial epidermolysis bullosa: report of a case. J Am A cad Dermatol. 1990;22:346–350.
Gedde-Dahl Jr T. Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Baltimore: The Johns Hopkins Press; 1971, 119.
Gedde-Dahl Jr T. The epidermolysis bullosa progressiva-hypoacusis (EBR3-HOAC) linkage. Cytogenet Cell Genet. 1984; 37:474.
Haber RM, Hanna W. Epidermolysis bullosa progressiva. J Am Acad Dermatol. 1987;16:195–200.
Ridley CM. Epidermolysis bullosa with unusual features: inverse type. Proc R Soc Med. 1977;70:576–577.
Pearson RW, Palier AS. Dermolytic (dystrophic) epidermolysis bullosa inversa. Arch. Dermatol. 1988;124:544–547.
Haber RM, Hanna W, Ramsay CA, Boxall L. Cicatricial junctional epidermolysis bullosa. J Am Acad Dermatol. 1985; 12:836–844.
Tabas M, Gibbons S, Bauer EA. The mechanobullous Diseases. Dermatol Clin. 1987;5:123–136.
Nakar S, Ingber A, Kremer I, Hodak E, Garty B-Z, Ben-David E, David M, Shohat M. Late onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome. Am J Med Genet. (in press).
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Lin, A.N., Carter, D.M. (1992). Junctional Epidermolysis Bullosa: A Clinical Overview. In: Lin, A.N., Carter, D.M. (eds) Epidermolysis Bullosa. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-2914-8_8
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