REFERENCES1.
Gedde-Dahl Jr T: Epidermolysis Bullosa. A Clinical, Genetic and Epidemiologic Study,
Baltimore: Johns Hopkins University Press; 1971:1-180.2.
Fine J-D, Eady RAJ, Bauer EA, et al: 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; 42:1051-1066.3.
Fine JD, Bauer EA, Gedde-Dahl T: Inherited epidermolysis bullosa: definition and historical overview.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:1-19.4.
Pearson RW: Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 1962; 39:551-575.5.
Goldsmith LA, Briggaman RA: Monoclonal antibodies to anchoring fibrils for the diagnosis of epidermolysis bullosa. J Invest Dermatol 1983; 81:464-466.6.
Fine JD, Breathnach SM, Hintner H, Katz SI: KF-1 monoclonal antibody defines a specific basement membrane antigenic defect in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 1984; 82:35-38.7.
Heagerty AHM, Kennedy AR, Leigh IM, et al: Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol 1986; 115:125-131.8.
Heagerty AHM, Kennedy AR, Eady RAJ, et al: GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet 1986; 1:860.9.
Fine JD, Johnson LB, Suchindran CM: The National Epidermolysis Bullosa Registry. J Invest Dermatol 1994; 102:54S-56S.10.
Fine JD, Bauer EA, McGuire J, Moshell A: Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:520.11.
Bonifas JM, Rothman AL, Epstein E: Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. J Invest Dermatol 1991; 39:503A.12.
Fine JD, Johnson LB, Suchindran C, et al: The epidemiology of inherited EB: findings within American, Canadian, and European study populations.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:101-113.13.
Pfendner E, Uitto J, Fine J-D: Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol 2001; 116:483-484.14.
Fuchs E, Coulombe P, Cheng J, et al: Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol 1994; 103(suppl.):25S-30S.15.
Fuchs EV: The molecular biology of epidermolysis bullosa simplex.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:280-299.16.
Pulkkinen L, Uitto J, Christiano AM: The molecular basis of the junctional forms of epidermolysis bullosa.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:300-325.17.
Christiano AM, Uitto J: Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa. Adv Dermatol 1996; 11:199-214.18.
Uitto J, Pulkkinen L, Christiano AM: The molecular basis of the dystrophic forms of epidermolysis bullosa.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:326-350.19.
Uitto J, Christiano AM: Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 1994; 287:16-22.20.
Ortiz-Urda S, Garcia J, Green CL, et al: Type VII collagen is required for Ras-driven epidermal tumorigenesis. Science 2005; 307:1773-1776.21.
Fine JD, Horiguchi Y, Stein DH, et al: Intraepidermal type VII collagenEvidence for abnormal intracytoplasmic processing of a major basement protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. J Am Acad Dermatol 1990; 22:188-195.22.
Christiano AM, Fine JD, Uitto J: Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. J Invest Dermatol 1997; 109:811-814.23.
Fine JD, Johnson LB, Cronce D, et al: Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity. J Invest Dermatol 1993; 101:232-236.24.
Fine JD: The classification of inherited epidermolysis bullosa: current approach, pitfalls, unanswered questions, and future directions.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:20-47.25.
Fine JD, Johnson LB, Suchindran C, et al: Cutaneous and skin-associated musculoskeletal manifestations of inherited EB: the National Epidermolysis Bullosa Registry experience.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:114-146.26.
Fine JD, Johnson LB, Suchindran C, et al: Extracutaneous features of inherited EB: the National Epidermolysis Bullosa Registry experience.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:147-174.27.
Fine JD, Johnson LB, Moshell A, Suchindran C: The risk of selected major extracutaneous outcomes in inherited epidermolysis bullosa: lifetable analyses of the National Epidermolysis Bullosa Registry study population.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:193-205.27a.
Fine JD, Johnson LB, Weiner M, et al: Eye involvement in inherited epidermolysis bullosa (EB): experience of the National EB registry. Am J Ophthalmol 2004; 138:254-262.27b.
Fine JD, Johnson LB, Weiner M, Suchindran C: Gastrointestinal complications of inherited epidermolysis bullosa (EB): experience of the National EB registry. J Ped Gastroenterol Nutr 2007.in press.28.
Wright JT, Fine JD, Johnson LB: Hereditary epidermolysis bullosa: oral manifestations and dental management. Pediatr Dent 1993; 15:242-248.29.
Wright JT: Oral manifestations of epidermolysis bullosa.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:236-257.30.
Wright JT, Fine JD, Johnson L: Dental caries risk in hereditary epidermolysis bullosa. Pediatr Dent 1994; 16:427-432.31.
Fine JD, Johnson LB, Weiner M, et al: Pseudosyndactyly and musculoskeletal deformities in inherited epidermolysis bullosa (EB): experience of the National Epidermolysis Bullosa Registry, 1986-2002. J Hand Surg [Br] 2005; 30:14-22.32.
Fine JD, Johnson LB, Weiner M, et al: Inherited epidermolysis bullosa (EB) and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry. Am J Kidney Dis 2004; 44:651-660.33.
Fine JD, Johnson LB, Suchindran C, et al: Premature death and inherited epidermolysis bullosa: contingency table and lifetable analyses of the National Epidermolysis Bullosa Registry study population.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:206-224.33a.
Fine JD, Johnson LB, Weiner M, Suchindran C: Tracheolaryngeal complications of inherited epidermolysis bullosa (EB): experience of the National EB registry. Laryngoscope 2007.in press34.
Fine JD, Johnson LB, Suchindran C, et al: Cancer and inherited epidermolysis bullosa: lifetable analyses of the National Epidermolysis Bullosa Registry study population.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:175-192.35.
Fine JD, Smith LT: Non-molecular diagnostic testing of inherited epidermolysis bullosa: current techniques, major findings, and relative sensitivity and specificity.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:48-78.36.
Fine JD, Johnson L, Wright T: Epidermolysis bullosa simplex superficialis: a new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. Arch Dermatol 1989; 125:633-638.37.
Fenjves ES: Gene therapy: principles and potential application in inherited epidermolysis bullosa.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:407-419.38.
Ortiz-Urda S, Thyagarajan B, Keene DR, et al: PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. Human Gene Ther 2003; 14:923-928.38a.
Mavilio F, Pellegrini G, Ferrari S, et al: Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nature Med 2006; 12:1397-1402.39.
Kopp J, Horch RE, Stachel K-D, et al: Hematopoietic stem cell transplantation and subsequent 80% skin exchange by grafts from the same donor in a patient with Herlitz disease. Transplantation 2005; 79:255-256.40.
Tkach JR: Treatment of recurrent bullous eruption of the hand and feet (Weber-Cockayne disease) with topical aluminum chloride [Letter]. J Am Acad Dermatol 1982; 6:1095-1096.41.
Falabella AF, Valencia IC, Eaglstein WH, Schachner LA: Tissue-engineered skin (Apligraf) in the healing of patients with epidermolysis bullosa wounds. Arch Dermatol 2000; 136:1225-1230.42.
Fine JD: Skin bioequivalents and their role in the treatment of inherited epidermolysis bullosa [Editorial]. Arch Dermatol 2000; 136:1259-1260.43.
Bauer EA, Cooper TW, Tucker DR, Esterly NB: Phenytoin therapy of recessive dystrophic epidermolysis bullosaClinical trial and proposed mechanism of action on collagenase. N Engl J Med 1980; 303:776-781.44.
Fine JD, Johnson L: Efficacy of systemic phenytoin in the treatment of junctional epidermolysis bullosa. Arch Dermatol 1988; 124:1402-1406.45.
Caldwell-Brown D, Stern RS, Lin AN, Carter DM: Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. N Engl J Med 1992; 327:163-167.46.
Retief CR, Malkinson FD, Pearson RW: Two familial cases of epidermolysis bullosa simplex successfully treated with tetracycline. Arch Dermatol 1999; 135:997-998.47.
Fine JD, Eady RAJ: Tetracycline and epidermolysis bullosa simplex–a new indication for one of the oldest and most widely used drugs in dermatology. Arch Dermatol 1999; 135:981-982.48.
Fritsch P, Klein G, Aubock J, Hintner H: Retinoid therapy of recessive dystrophic epidermolysis bullosa [Letter]. J Am Acad Dermatol 1983; 9:766-767.49.
Fine JD, Weiner M, Stein A, et al: Systemic isotretinoin and recessive dystrophic epidermolysis bullosa (RDEB): results of a Phase 1 clinical trial. J Invest Dermatol 2001; 117:543.50.
Fine JD, Bauer EA, McGuire J: The treatment of inherited epidermolysis bullosa: nonmolecular approaches.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:374-406.51.
Fine JD, McGuire J: Altered nutrition and inherited epidermolysis bullosa.
In: Fine JD, Bauer EA, McGuire J, Moshell A, ed. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry,
Baltimore: Johns Hopkins University Press; 1999:225-235.
