Abstract
The term epidermolysis bullosa (EB) hereditaria comprises a group of genetically and clinically heterogeneous diseases which are characterized by the formation of blisters and erosions on skin and mucous membranes following minor traction or trauma (i.e. “mechano-bullous diseases”). The name EB was first used by Koebner in 1886 [6] although cases consistent with this diagnosis were described earlier by others [4]. Our current nomenclature reflects the ongoing efforts of many clinicians and researchers throughout the twentieth century whose published reports on new clinical variants and diagnostically useful laboratory findings have allowed EB patients to be distinguished phenotypically, ultrastructurally, antigenically, and now most recently, molecularly.
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References
Callot-Mellot C, et al (1997) Epidermolysis bullosa acquisita in childhood. Arch Dermatol 133:1122–1126
Fine J-D, Eady RAJ, Bauer EA, et al (2000) 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 42:1051–1066
Fine J-D, Eady RAJ, Bauer JA, et al (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931–950
Fine JD, Bauer EA, Gedde-Dahl T (1999) Inherited epidermolysisbullosa: definition and historical overview. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Gammon WR (1991) Epidermolysis bullosa acquisita: a disease of autoimmunity to type VII collagen. J Autoimmun 4:59–71
Koebner H (1886) Hereditäre Anlage zur Blasenbildung (epidermolysis bullosa hereditaria). Dtsch Med Wochenschr 12:21–22
Sakai LY, Keene DR, Morris NP, Burgeson RE (1986) Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol 103:1577–1586
Varki R, Sadowski S, Uitto J, Pfendner E (2007) Epidermolysis bullosa. II. Type VII collagen mutations and phenotype/genotype correlations in the dystrophic subtypes. J Med Genet 44:181–192
References
Bauer JW, et al (2001) A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Am J Pathol 158:617–625
Buchbinder LH, Lucky AW, Ballard E, et al (1986) Severe infantile epidermolysis bullosa simplex: Dowling-Meara type. Arch Dermatol 122:190–198
Cummins RE, et al (2001) Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol 117:1103–1107
Darling TN, Bauer JW, Hintner H, Yancey KB (1997) Generalized atrophic benign epidermolysis bullosa. Adv Dermatol 13:87–119
Darling TN, McGrath JA, Yee C, et al (1997) Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 108:463–468
Darling TN, et al (1998) A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. J Invest Dermatol 110:170–173
Dowling GB, Meara RH (1954) Epidermolysis bullosa resembling juvenile dermatitis herpetiformis. Br J Dermatol 66:139–143
Fine J-D, Eady RAJ, Bauer EA, et al (2000) 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 42:1051–1066
Fine J-D, Johnson LB, Weiner M, et al (2004) Inherited epidermolysis bullosa (EB) and the risk of death from renal disease: experience of the National EB Registry. Am J Kidney Dis 44:651–660
Fine J-D, Johnson LB, Weiner M, et al (2004) Genitourinary complications of inherited epidermolysis bullosa (EB): experience of the National EB Registry and review of the literature. J Urol 172:2040–2044
Fine J-D, Johnson LB, Weiner M, et al (2004) Eye involvement in inherited epidermolysis bullosa (EB): experience of the National EB Registry. Am J Ophthalmol 138:254–262
Fine J-D, Johnson LB, Weiner M, et al (2005) Pseudosyndactyly and musculoskeletal deformities in inherited epidermolysis bullosa (EB): experience of the National EB Registry, 1986–2002. J Hand Surg (British and European Volume) 30B:14–22
Fine J-D, Johnson LB, Weiner M, Suchindran C (2007) Tracheolaryngeal complications of inherited epidermolysis bullosa. Laryngoscope 117:1652–1660
Fine J-D, Eady RAJ, Bauer JA, et al (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931–950
Fine J-D, Johnson LB, Weiner M, Suchindran C (2008) Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 152:276–280
Fine J-D, Johnson LB, Weiner M, Suchindran C (2008) Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National EB Registry. J Pediatr Gastroenterol Nutr 46:147–158
Fine JD, Bauer EA, McGuire J, Moshell A (1999) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Fine JD, Johnson LB, Suchindran C, et al (1999) Cancer and inherited epidermolysis bullosa: lifetable analyses of the National Epidermolysis Bullosa Registry study population. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Fuchs EV (1999) The molecular biology of epidermolysis bullosa simplex. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Gache Y, Chavanas S, Lacour JP, et al (1996) Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 97:2289–2298
Gedde-Dahl T Jr (1971) Epidermolysis bullosa. A clinical, genetic and epidemiologic study. The Johns Hopkins Press, Baltimore
Haber RM, Hanna W, Ramsay CA, Boxall LBH (1985) Cicatricial junctional epidermolysis bullosa. J Am Acad Dermatol 12:836–844
Herlitz O (1935) Kongenitaler nicht syphilitischer Pemphigus: eine Übersicht nebst Beschreibung einer neuen Krankheitsform. Acta Paediatr 17:315–371
Hintner H, Wolff K (1982) Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118:375–384
Jonkman MF (1999) Hereditary skin diseases of hemidesmosomes. J Derm Science 20:103–121
Lin AN, Carter DM (eds) (1992) Epidermolysis bullosa: basic and clinical aspects. Springer, New York
McLean WHI, Pulkkinen L, Smith FJD, et al (1996) Loss of plectin (HD-1) causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Develop 10:1724–1735
Mellerio JE, et al (1998) Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol 139:862–871
Pohla-Gubo G, et al (1995) Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 4:199–206
Pulkkinen L, Uitto J, Christiano AM (1999) The molecular basis of the junctional forms of epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Shemanko CS, Horn HM, Keohane SG, et al (2000) Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. Br J Dermatol 142:315–320
Siegel DH, Ashton GHS, Penagos HG, et al (2003) Loss of kindlin-1, a human homolog of the C. elegans actin-extracellular matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 73:174–187
Smith FJD, Morley SM, Rugg EL, et al (1993) Clustering of epidermolysis bullosa simplex mutations in relation to disease phenotype: data from Weber-Cockayne EBS. J Invest Dermatol 101:481
Uitto J, Pulkkinen L, Christiano AM (1994) Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin-5) genes. J Invest Dermatol 103[Suppl]:39S–46S
Uitto J, Pulkkinen L, Christiano AM (1999) The molecular basis of the dystrophic forms of epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Uitto J, Pulkkinen L (2000) The genodermatoses: candidate diseases for gene therapy. Hum Gene Ther 11:2267–2275
Wright JT, Fine JD, Johnson LB (1991) Oral soft tissues in hereditary epidermolysis bullosa. Oral Surg Oral Med Oral Pathol 71:440–446
Wright JT (1999) Oral manifestations of epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
References
Fine JD, Johnson LB, Suchindran CM (1994) The National Epidermolysis Bullosa Registry. J Invest Dermatol 102:54S–56S
Fine JD (1996) Rare disease registries — lessons learned from the National Epidermolysis Bullosa Registry. J Rare Diseases 2:5–14
Fine JD, Bauer EA, McGuire J, Moshell A (1999) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Fine JD, Johnson LB, Suchindran C, Carter DM, Moshell A (1999) The National Epidermolysis Bullosa Registry: organization, goals, methodologic approaches, basic demography, and accomplishments. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Fine JD, Johnson LB, Suchindran C, Moshell A, Gedde-Dahl T (1999) The epidemiology of inherited EB: findings within American, Canadian, and European study populations. In: Fine JD, Bauer EA, McGuire J, Moshell A (eds) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press, Baltimore
Gedde-Dahl T, Anton-Lamprecht I (1996) Epidermolysis bullosa. In: Rimoin DL, Connor JM, Pyeritz RE (eds) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill Livingstone, New York
Gedde-Dahl TJ, Anton-Lamprecht I (1983) Epidermolysis bullosa. In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics, 1st edn. Churchill Livingstone, Edinburgh
Horn HIM, Priestley GC, Eady RAJ, Tidman MJ (1997) The prevalence of epidermolysis bullosa in Scotland. Br J Dermatol 136:560–564
Pavicic Z, Kmet-Vizintin P, Kansky A, Dobric I (1990) Occurrence of hereditary bullous epidermolyses in Croatia. Pediatr Dermatol 7:108–110
Tadini G, Gualandri L, Colombi M, et al (2005) The Italian registry of hereditary epidermolysis bullosa. G Ital Dermatol Venereol 140:359–372
References
Fine J-D, Eady RAJ, Bauer JA, et al (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931–950
Fine JD, Johnson L, Wright T (1989) Epidermolysis bullosa simplex superficialis: a new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. Arch Dermatol 125:633–638
Kerl H, Garbe C, Cerroni L, Wolff HH (2003) Hereditäre Epidermolysen. In: Kerl H, Garbe C, Cerroni L, Wolff HH (eds) Histopathologie der Haut. Springer, Berlin
Niemi KM, Kero M, Kanerva L, Mattila R (1983) Epidermolysis bullosa simplex. A new histologic subgroup. Arch Dermatol 119:138–141
Pearson RW (1962) Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 39:551–575
Tylor G, Venning V, Wojnaroska F, Millard PR (1993) Suction-induced basal cell cytolysis in the Weber-Cockayne variant of epidermolysis bullosa simplex. J Cutan Pathol 20:389–392
Weedon D (2002) Skin pathology, 2nd edn. Churchill Livingstone, Oxford
References
Bruckner-Tuderman L, Niemi KM, Kero M, Schnyder UW, Reunala T (1990) Type-VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa. Br J Dermatol 122:383–390
Bruckner-Tuderman L (1999) Hereditary skin diseases of anchoring fibrils. J Dermatol Sci 20:122–133
Eady RAJ (1983) Diagnosis of epidermolysis bullosa. Br J Dermatol 108:621–627
Eady RAJ (1998) Epidermolysis bullosa. In:Champion RH, Burton JL, Burns DA, Breathnach SM (eds) Textbook of Dermatology, 6th edn. Blackwell, Oxford
Hintner H, Sting G, Schuler G, et al (1981) Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in mechanobullous diseases. J Invest Dermatol 76:113–118
Marinkovich MP (1999) Update on inherited bullous dermatoses. Dermatol Clin 41:950–956
McGrath JA, Darling T, Gatalica B, et al (1996) A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 106:771–774
Michel B, Milner Y, David K (1973) Preservation of tissue fixed immunoglobulins in skin biopsies of patients with lupus erythematosus and bullous diseases. Preliminary report. J Invest Dermatol 59:449–452
Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J (1996) Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 106:119–124
Uitto J (2005) Epidermolysis bullosa. In: Spitz JL (ed) Genodermatoses — A clinical guide to genetic skin disorders, 2nd edn. Lippincott Williams & Wilkins, Philadelphia
References
Anton-Lamprecht I, Hashimoto I (1976) Epidermolysis bullosa dystrophica-recessive: a possible role of anchoring fibrils in the pathogenesis. J Invest Dermatol 32:69–76
Anton-Lamprecht I, Schnyder UW (1982) Epidermolysis bullosa herpetiformis Dowling-Meara: a report of a case and pathomorphogenesis. Dermatologica 164:221–235
Anton-Lamprecht I (1994) Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol 103:6S–12S
Arwill T, Bergenholtz A, Thilander H (1968) Epidermolysis bullosa hereditaria. 5. The ultrastructure of oral mucosa and skin in four cases of the letalis form. Acta Pathol Microbiol Scand 74:311–324
Briggaman RA, Wheeler CE (1975) Epidermolysis bullosa dystrophica-recessive: a possible role of anchoring fibrils in the pathogenesis. J Invest Dermatol 65:203–211
Bruckner-Tuderman L, Vogel A, Ruegger S, Odermatt B, Tonz O, Schnyder UW (1989) Epidermolysis bullosa simplex with mottled pigmentation. J Am Acad Dermatol 21:425–432
Chan Y-M, Anton-Lamprecht I, Yu Q-C, et al (1994) A human keratin 14 “knockout”: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes and Development 8:2574–2587
Coleman R, Harper J, Lake B (1993) Epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 128:679–685
Eady RA, Gunner DB, Tidman MJ, Nicolaides KH, Rodeck CH (1984) Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy. J Clin Pathol 37:633–638
Eady RAJ, McGrath JA, McMillan JR (1994) Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. J Invest Dermatol 103 [Suppl]:13S–18S
Fine J-D, Eady RAJ, Bauer JA, et al (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931–950
Fine JD, Johnson L, Wright T (1989) Epidermolysis bullosa simplex superficialis: a new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. Arch Dermatol 125:633–638
Fine JD, Stenn J, Johnson L, Wright T, Bock H-GO, Horiguchi Y (1989) Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. Arch Dermatol 125:931–938
Fine JD, Horiguchi Y, Stein DH, Esterly NB, Leigh IM (1990) Intraepidermal type VII collagen. Evidence 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 22:188–195
Gache Y, Chavanas S, Lacour JP, et al (1996) Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 97:2289–2298
Haneke E, Anton-Lamprecht I (1982) Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol 78:219–223
Hashimoto I, Gedde-Dahl T Jr, Schnyder UW, Anton-Lamprecht I (1976) Ultrastructural studies in epidermolysis bullosa hereditaria: IV. Recessive dystrophic types with junctional blistering (infantile or Herlitz-Pearson type and adult type). Arch Dermatol Res 257:17–32
Hashimoto K, Matsumoto M, Iacobelli D (1985) Transient bullous dermolysis of the newborn. Arch Dermatol 121:1429–1438
Hintner H, Wolff K (1982) Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118:375–384
Hovnanian A, Blanchet-Bardon C, de Prost Y (1989) Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature. Pediatr Dermatol 6:82–90
Huber M, Floeth M, Borradori L, et al (2002) Deletion of the cytoplasmic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. J Invest Dermatol 118:185–192
Ishida-Yamamoto A, McGrath JA, Chapman SJ, Leigh IM, Lane EB, Eady RAJ (1991) Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol 97:959–968
Jonkman MF, Pasmooij AM, Pasmans SG, et al (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653–660
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AHM, Schofield OMV, Eady RAJ (1992) Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review. Br J Dermatol 126:421–430
McGrath JA, McMillan JR, Shemano CS, et al (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17:240–244
McMillan JR, McGrath JA, Tidman MJ, Eady RAJ (1998) Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa. J Invest Dermatol 110:132–137
McMillan JR, Haftek M, Akiyama M, et al (2003) Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin-1. J Invest Dermatol 121:96–103
Niemi K-M, Sommer H, Kero M, Kanerva L, Haltia M (1988) Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch Dermatol 124:551–554
Niemi KM, Kero M, Kanerva L, Mattila R (1983) Epidermolysis bullosa simplex. A new histologic subgroup. Arch Dermatol 119:138–141
Pasmooij AM, van der Steege G, Pas HH, et al (2004) Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. Br J Dermatol 151:669–674
Pearson RW (1962) Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 39:551–575
Pearson RW, Potter B, Strauss F (1974) Epidermolysis bullosa hereditaria letalis: clinical and histological manifestations and course of the disease. Arch Dermatol 109:349–355
Rugg EL, McLean WHI, Lane EB, et al (1994) A functional “knockout” of human keratin 14. Genes and Development 8:2563–2573
Shimizu H, Sato M, Ban M, et al (1997) Immunohistochemical, ultrastructural, and molecular features of Kindler syndrom distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol 133:1111–1117
Smith FJ, Eady RAJ, Leigh IM, et al (1996) Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nature Genet 13:450–457
Smith LT (1993) Ultrastructural findings in epidermolysis bullosa. Arch Dermatol 129:1578–1584
Tidman MJ, Eady RAJ (1985) Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis by a quantitative ultrastructural technique. J Invest Dermatol 84:374–377
Tidman MJ, Eady RAJ (1986) Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51–56
Uttam J, Hutton E, Coulombe P, et al (1996) The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci USA 93:9079–9084
Varari MD, Phillips RJ, Lake BD, Harper JI (1995) Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Br J Dermatol 133:732–736
References
Ashton GH, Mellerio JE, Dunnill MG, Pulkkinen L, Christiano AM, Uitto J, Eady RA, McGrath JA (1997) A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 136:674–677
Coan PM, Burton GJ, Ferguson-Smith AC (2005) Imprinted genes in the placenta — A review. Placenta 26:S10–S20
den Dunnen JT, Antonarakis E (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Human Mutation 15:7–12
den Dunnen JT, Antonarakis E (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121–124
Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA (2006) Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol 126:2039–2043
Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA, (2005) Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 30:71–74
Fassihi H, Wessagowit V, Ashton GHS, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA, (2004) Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Br J Dermatol 151:70
Hon KL, Burd A, Choi PC, Luk NM (2007) Epidermolysis bullosa in three Chinese neonates. J Dermatolog Treat 18:306–311
Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM (1996) Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231–237
Kotzot D (2001a) Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet 38:497–507
Kotzot D (2001b) Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet 38:497–507
Kotzot D, Utermann G (2005) Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated. Amer J Med Genet Part A 136A:287–305
Miozzo M, Simoni G (2002) The role of imprinted genes in fetal growth. Biol Neonate 81:217–228
Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H (2005) Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn 7:28–35
Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J (1997) Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 61:611–619
Robinson WP (2000) Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22:452–459
Swales AKE, Spears N (2005) Genomic imprinting and reproduction. Reproduction 130:389–399
Takizawa Y, Pulkkinen L, Chao SC, Nakajima H, Nakano Y, Shimizu H, Uitto J (2000) Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 115:307–311
Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, Uitto J (1998) Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J Invest Dermatol 110:828–831
Zlotogora J (2004) Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles. Hum Genet 114:521–526
References
Cohen MM (2005) Proteus syndrome: an update. Am J Med Genet Part C 137C:38–52
Cserhaimi-Friedman PB, Garzon MC, Guzman E, et al (2001) Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa. J Invest Dermatol 117:1327–1328
Cserhaimi-Friedman PB, Anyane-Yeboa K, Christiano AM (2002) Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. Exp Dermatol 11:468–470
Darling TN, Yee C, Bauer JW, Hintner H, Yancey KB (1999) Revertant mosaicism: partial correction of a germline mutation in COL17A1 by a frame-resorting mutation. J Clin Invest 103:1371–1377
Gache Y, Allegra M, Bodemer C, et al (2001) Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum Mol Genet 10:2453–2461
Hamm H (1999) Cutaneous mosaicism of lethal mutations. Am J Med Genet 85:342–345
Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899–906
Happle R, Konig A (1999) Dominant traits may give rise to paired patches of either excessive or absent involvement. Am J Med Genet 84:176–177
Jonkman MF, Scheffer H, Stulp R, et al (1997) Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88:543–551
Jonkman MF (1999) Revertant mosaicism in human genetic disorders. Am J Med Genet 85:361–364
Jonkman MF, Castellanos Nuijts M, van Essen AJ (2003) Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders. Exp Dermatol 28:625–631
Lombillo VA, Sybert VP (2005) Mosaicism in cutaneous pigmentation. Curr Opin Pediatr 17:494–500
Matsumara Y, Horiguchi Y, Toda K, et al (1997) Mosaic expression of uncein and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa. Br J Dermatol 136:757–761
Nagao-Watanabe M, Fukao T, Matsui E, et al (2004) Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. Clin Genet 66:236–238
Palier AS (2004) Piecing together the puzzle of cutaneous mosaicism. J Clin Invest 114:1407–1409
Pasmooij AMG, Pas HH, Deviaene FCL, Nijenhuis M, Jonkman MF (2005) Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet 77:727–740
Pasmooij AMG, Pas HH, Boiling MC, Jonkman MF (2007) Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest 117:1240–1248
Poblete-Gutierrez P, et al (2004) Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest 114:1467–1474
Schuilenga-Hut PHL, Scheffer H, Pas HH, Nijenhuis M, Buys CHCM, Jonkman MF (2002) Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol 118:626–630
Siegel DH, Sybert VP (2006) Mosaicism in genetic skin disorders. Pediatr Dermatol 23:87–92
Smith FJD, Morley SM, McLean WHI (2004) Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 122:73–77
References
Alfirevic Z, Sundberg K, Brigham S (2003) Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 3:CD003252
Ashton GHS, Eady RAJ, McGrath JA (2000) Prenatal diagnosis for inherited skin disease. Clin Dermatol 18:643–648
Bianchi DW, Simpson JL, Jackson LG, et al (2002) Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 22:609–615
Brady RO, Uhlendorf BW, Jacobson CB (1971) Fabry’s disease: antenatal detection. Science 172:174–175
Braude P, Pickering S, Flinter F, Ogilvie CM (2002) Preimplantation genetic diagnosis. Nat Rev Genet 3:941–953
Broen AN, Mourn T, Bodtker AS, Ekeberg O (2005) The course of mental health after miscarriage and induced abortion: a longitudinal, five-year follow-up study. BMC Med 3:18
Christiano AM, Pulkkinen L, McGrath JA, Kon A, Uitto J (1997) Mutation based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17:343–354
Cleaver JE, Volpe JPG, Charles WC, Thomas GH (1994) Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome. Prenat Diagn 14:921–928
Cserhaimi-Friedman PB, Tang Y, Adler A, Krey L, Grifo JA, Christiano AM (2000) Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol 9:290–297
Dennis Lo YM, Chiu RW (2007) Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet 8:71–77
Devroey P, Van Steirteghem A (2004) A review of ten years experience of ICSI. Hum Reprod Update 10:19–28
Deyback JC, Grandchamp B, Grelier M, et al (1980) Prenatal exclusion of congenital erythropoietic porphyria (Günther’s disease) in a fetus at risk. Hum Genet 53:217–221
Dolan CR, Smith LT, Sybert VP (1993) Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alphafetoprotein. Am J Med Genet 47:395–400
Dunnill MG, Rodeck CH, Richards AJ, et al (1995) Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa. J Med Genet 32:749–750
Eady RA, Gunner DB, Tidman MJ, Nicolaides KH, Rodeck CH (1984) Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy. J Clin Pathol 37:633–638
Fassihi H, Eady RA, Mellerio JE, et al (2006) Prenatal diagnosis for severe inherited skin disorders: 25 years’ experience. Br J Dermatol 154:106–113
Fassihi H, Grace J, Lashwood A, et al (2006) Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome: birth of a healthy baby four years after embryo diagnosis and following two frozen embryo replacement cycles. Br J Dermatol 154:546–550
Fassihi H, Renwick PJ, Black C, McGrath JA (2006) Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. J Derm Sci 42:241–248
Fassihi H, Renwick PJ, Pickering S, Braude P, McGrath JA (2006) Preimplantation genetic diagnosis for inherited skin disorders in the UK: from bench to bedside to birth. Br J Dermatol 155[Suppl 1]:3–4
Fine JD, Holbrook KA, Elias S, Anton-Lamprecht I, Rauskolb R (1990) Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prenat Diagn 10:219–229
Finning KM, Martin PG, Soothill PW, Avent ND (2002) Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion 42:1079–1085
Gache Y, Chavanas S, Lacour JP, et al (1996) Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 97:2289–2298
Golbus MS, Sagebiel RW, Filly RA, Gindhart TD, Hall JG (1980) Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. N Engl J Med 302:93–95
Grace J, El-Toukhy T, Scriven P, et al (2006) Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome. BJOG 113:1393–1401
Handyside AH, Kontogianni EH, Hardy K, Winston RM (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344:768–770
Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR (1992) Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327:905–909
Hardy K, Martin KL, Leese HJ, Winston RM, Handyside AH (1990) Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Human Reprod 5:708–714
Heagerty AHM, Kennedy AR, Gunner DB, Eady RAJ (1986) Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol 86:603–605
Heagerty AHM, Eady RAJ, Kennedy AR, et al (1987) Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. Br J Dermatol 117:271–275
Hellani A, Coskun S, Tbakhi A, AI-Hassan S (2005) Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod Biomed Online 10:376–380
Holbrook KA, Smith LT, Elias S (1993) Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 129:1437–1454
Hovnanian A, Hilal L, Blanchet-Bardon C, et al (1995) DNA-based prenatal diagnosis of the Hallopeau Siemens form of recessive epidermolysis bullosa by type VII collagen gene analysis in six pregnancies at risk for recurrence. J Invest Dermatol 104:456–461
Irvine AD, McLean WH (2003) The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol 148:1–13
Jonkman MF, De Long MC, Heeres K, Sonnenberg A (1992) Expression of integrin alpha6 beta4 in junctional epidermolysis bullosa. J Invest Dermatol 99:489–496
Jonkman MF, de Jong MC, Heeres K, et al (1995) 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 95:1345–1352
Lo YM, Corbetta N, Chamberlain PF, et al (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350:485–487
Mavilio F, Pellegrini G, Ferrari S, et al (2006) Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 12:1397–1402
McGrath JA, Dunnill MGS, Christiano AM, et al (1996) First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. Br J Dermatol 134:734–739
Muth C, Exler U, Miny P, Holzgreve W (1989) Psychological adjustment to abortion for genetic indications in the 2nd trimester. Z Geburtshilfe Perinatal 193:96–99
Ogilvie CM, Braude PR, Scriven PN (2005) Preimplantation genetic diagnosis — an overview. J Histochem Cytochem 53:255–260
Poon LL, Leung TN, Lau TK, Lo YM (2000) Presence of fetal RNA in maternal plasma. Clin Chem 46:1832–1834
Rayburn WF, LaFerla JJ (1982) Second-trimester pregnancy termination for genetic abnormalities. J Reprod Med 27:584–588
Renwick PJ, Trussler J, Ostad-Saffari E, et al (2006) Proof of principle and first cases using preimplantation genetic haplotyping — a paradigm shift for embryro diagnosis. Reprod Biomed Online 13:110–119
Renwick PJ, Ogilvie C (2007) Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev Mol Diagn 7:33–43
Rodeck CH, Eady RAJ, Gosden CM (1980) Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1:949–952
Rodeck CH, Nicolaides KH (1983) Fetoscopy and fetal tissue sampling. Br Med Bull 39:332–337
Sermon KD, Michiels A, Harton G, et al (2007) ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod 22:323–336
Shimizu A, Akiyama M, Ishiko A, Yoshiike T, Suzumori K, Shimizu H (2005) Prenatal exclusion of harlequin ichthyosis: potential pitfalls in the timing of the fetal skin biopsy. Br J Dermatol 153:811–814
Thornhill AR, Pickering SJ, Whittock NV, et al (2000) Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Prenat Diagn 20:1055–1062
Uitto J, Pfendner E, Jackson LC (2003) Probing the fetal genome: progress towards non-invasive prenatal diagnosis. Trends Mol Med 9:339–343
Vailly J, Pulkkinen L, Miquel C, et al (1995) Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 104:462–466
Yacoub T, Campbell CA, Gordon YB, Kirby JD, Kitau MJ (1979) Maternal serum and amniotic fluid concentrations of alphafetoprotein in epidermo lysis bullosa simplex. Br Med J 1:307
References
Klausseger A, Pulkkinen L, Pohla-Gubo G, et al (2001) Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? J Invest Dermatol 116:474–475
McLean WHI, Pulkkinen L, Smith FJD, et al (1996) Loss of plectin (HD-1) causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Develop 10:1724–1735
Pfendner E, Uitto J, Fine J-D (2001) Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol 116:483–484
Takizawa Y, Pulkkinen L, Chao SC, et al (2000) Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 115:307–311
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Lanschuetzer, C.M. et al. (2009). General Aspects. In: Fine, JD., Hintner, H. (eds) Life with Epidermolysis Bullosa (EB). Springer, Vienna. https://doi.org/10.1007/978-3-211-79271-1_1
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