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Hereditäre Epidermolysen

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Braun-Falco's Dermatologie, Venerologie und Allergologie

Part of the book series: Springer Reference Medizin ((SRM))

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Zusammenfassung

Der Begriff „hereditäre Epidermolysis bullosa“ (EB) umfasst klinisch sowie genetisch heterogene Erkrankungen, die mit Blasen der Haut und der hautnahen Schleimhäute nach minimalen Traumen einhergehen. Der klinische Schweregrad reicht von schweren Subtypen mit extremer Hautfragilität, disseminierten Blasen und Wunden bis zu milden Subtypen mit Blasen erst nach ausgeprägter mechanischer Belastung. Die Inzidenz für die gesamte Erkrankungsgruppe wurde auf etwa 1 pro 50.000 Geburten geschätzt. In Deutschland weisen die Daten des EB-Netzwerks auf eine Inzidenz von 1 von 25.000 Geburten hin (www.netzwerk-eb.de). Ursächlich für die hereditäre EB sind Mutationen in Genen, die für Proteine kodieren, die in der epidermalen oder dermoepidermalen Adhäsion eine Rolle spielen. Die revidierte Klassifikation der EB umfasst fünf Ebenen: die Blasenbildungsebene, den klinischen Phänotyp, den Erbmodus, die relative Expression des betroffenen Proteins und die krankheitsverursachende Mutation.

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Literatur

  • Debra International. http://www.debra-international.org/med-professionals/clinical-practice-guidelines-cpgs-for-eb/

  • El Hachem M, Zambruno G, Bourdon-Lanoy E et al (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis 9:76

    Article  PubMed  PubMed Central  Google Scholar 

  • Fine JD (2016) Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis bullosa Registry. JAMA Dermatol 152:1231–1238

    Article  PubMed  Google Scholar 

  • Fine JD, Bruckner-Tuderman L, Eady RA et al (2014) Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 70:1103–1126

    Article  PubMed  Google Scholar 

  • Goldschneider KR, Good J, Harrop E, Dystrophic Epidermolysis Bullosa Research Association International (DEBRA International) et al (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines. BMC Med 12:178

    Article  PubMed  PubMed Central  Google Scholar 

  • Hammersen J, Has C, Naumann-Bartsch N et al (2016) Genotype, clinical course, and therapeutic decision making in 76 infants with severe generalized junctional epidermolysis bullosa. J Invest Dermatol 136:2150–2157

    Article  CAS  PubMed  Google Scholar 

  • Has C, Bruckner-Tuderman L (2014) The genetics of skin fragility. Annu Rev Genomics Hum Genet 15:245–268

    Article  CAS  PubMed  Google Scholar 

  • Has C, He Y (2016) Research techniques made simple: immunofluorescence antigen mapping in epidermolysis bullosa. J Invest Dermatol 136:e65–e71

    Article  CAS  PubMed  Google Scholar 

  • Has C, Castiglia D, del Rio M et al (2011) Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 32:1204–1212

    Article  CAS  PubMed  Google Scholar 

  • Jonkman MF, Pasmooij AMG (2009) Revertant mosaicism: patchwork in the skin. N Engl J Med 360:1680–1682

    Article  CAS  PubMed  Google Scholar 

  • Krämer SM, Serrano MC, Zillmann G et al (2012) Oral health care for patients with epidermolysis bullosa – best clinical practice guidelines. Int J Paediatr Dent 22:1–35

    Article  PubMed  Google Scholar 

  • Laimer M, Prodinger C, Bauer JW (2015) Hereditary epidermolysis bullosa. J Dtsch Dermatol Ges 13:1125–1133

    PubMed  Google Scholar 

  • Mellerio JE, Robertson SJ, Bernardis C et al (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol 174:56–67

    Article  PubMed  Google Scholar 

  • Montaudié H, Chiaverini C, Sbidian E et al (2016) Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis 11:117

    Article  PubMed  PubMed Central  Google Scholar 

  • Pope E, Lara-Corrales I, Mellerio J et al (2012) A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol 67:904–917

    Article  PubMed  PubMed Central  Google Scholar 

  • Sathishkumar D, Orrin E, Terron-Kwiatkowski A (2016) The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. J Invest Dermatol 136:719–721

    Article  CAS  PubMed  Google Scholar 

  • Szczecinska W, Nesteruk D, Wertheim-Tysarowska K et al (2014) Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. Br J Dermatol 171:1206–1210

    Article  CAS  PubMed  Google Scholar 

  • Uitto J, Bruckner-Tuderman L, Christiano AM et al (2016a) Progress toward treatment and cure of epidermolysis bullosa: summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol 136:352–358

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Uitto J, Vahidnezhad H, Youssefian L (2016b) Genotypic heterogeneity and the mode of inheritance in epidermolysis bullosa. JAMA Dermatol 152:517–520

    Article  PubMed  Google Scholar 

  • Uitto J, Has C, Vahidnezhad H et al (2017) Molecular pathology of the basement membrane zone in heritable blistering diseases the paradigm of epidermolysis bullosa. Matrix Biol 57–58:76–85

    Article  PubMed  Google Scholar 

  • Youssefian L, Vahidnezhad H, Uitto J (2016) Kindler Syndrome. In: Pagon RA, Adam MP, Ardinger HH et al (Hrsg) GeneReviews® [Internet]. University of Washington, Seattle, Seattle; 1993–2016

    Google Scholar 

Erstbeschreiber

  • Adashi EY, Louis FJ, Vasquez M (1980) An unusual case of epidermolysis bullosa hereditaria letalis with cutaneous scarring and pyloric atresia. J Pediatr 96:443–446

    Article  CAS  PubMed  Google Scholar 

  • Bonifas JM, Rothman AL, Epstein EH Jr (1991) Epidermolysis bullosa simplex: evidence in two families for keratin gene anomalies. Science 254:1202–1205

    Article  CAS  PubMed  Google Scholar 

  • Cabral RM, Liu L, Hogan C (2010) Homozygous mutations in the 5’ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 130:1543–1550

    Article  CAS  PubMed  Google Scholar 

  • Cockayne EA (1938) Recurrent bullous eruption of the feet. Br J Derm Syph 50:358–362

    Article  Google Scholar 

  • Dowling GB, Meara RH (1954) Epidermolysis bullosa dermatitis herpetiformis. Br J Dermatol 66:139–143

    Article  CAS  PubMed  Google Scholar 

  • El Shafie M, Stidham GL, Klippel CH et al (1979) Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two prematurenewborn siblings. J Pediatr Surg 14:446–449

    Article  CAS  PubMed  Google Scholar 

  • Fine JD, Johnson L, Wright T et al (1989) Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety. Pediatr Dermtol 6:1–5

    Article  CAS  Google Scholar 

  • Gedde-Dahl T Jr (1971) Epidermolysis bullosa: a clinical, genetic and epidemiological study. John Hopkins Press, Baltimore

    Google Scholar 

  • Gostyńska KB, Nijenhuis M, Lemmink H et al (2015) Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Hum Mol Genet 24:3155–3162

    Article  PubMed  Google Scholar 

  • Groves RW, Liu L, Dopping-Hepenstal PJ et al (2010) A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 130:1551–1557

    Article  CAS  PubMed  Google Scholar 

  • Hacham-Zadeh S, Holubar K (1985) Skin peeling syndrome in a Kurdish family. Arch Dermatol 121:545–546

    Article  CAS  PubMed  Google Scholar 

  • Hallopeau MH (1896) Nouvelle etude sur la dermatite bulleuse congenitale avec kystes epidermiques. Ann Dermatol Syphiligr 7:453–459

    Google Scholar 

  • Has C, Spartà G, Kiritsi D et al (2012) Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med 366:1508–1514

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hashimoto I, Schnyder UW, Anton-Lamprecht I (1976) Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152:72–86

    Article  CAS  PubMed  Google Scholar 

  • He Y, Maier K, Leppert J et al (2016) Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. Am J Hum Genet 99:1395–1404

    Article  CAS  PubMed  Google Scholar 

  • Herlitz O (1935) Kongenitaler nicht syphilitischer Pemphigus: Eine Ubersicht nebst Beschreibung einer neuen Krankheitsform. Acta Paediatr 17:315–371

    Article  Google Scholar 

  • Hintner H, Wolff K (1982) Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118:375–384

    Article  CAS  PubMed  Google Scholar 

  • Jonkman MF, Pasmooij AMG, Pasmans SGMA et al (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653–660

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kindler T (1954) Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 66:104–111

    Article  CAS  PubMed  Google Scholar 

  • Köbner H (1886) Hereditäre Anlage zur Blasenbildung (Epidermolysis bullosa hereditaria). Dtsch Med Wochenschr 2:21–22

    Article  Google Scholar 

  • Lin Z, Li S, Feng C et al (2016) Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet 48:1508–1516

    Article  PubMed  Google Scholar 

  • McGrath JA, Gatalica B, Christiano AM et al (1995) Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11:83–86

    Article  CAS  PubMed  Google Scholar 

  • McGrath JA, McMillan JR, Shemanko CS et al (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17(2):240–244

    Article  CAS  PubMed  Google Scholar 

  • McGrath JA, Stone KL, Begum R et al (2012) Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility. Am J Hum Genet 91:1115–1121

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Niemi KM, Sommer H, Kero M, Kanerva L, Haltia M (1988) Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch Dermatol 124:551–554

    Article  CAS  PubMed  Google Scholar 

  • Pasini A (1928) Dystrophie cutanee bulleuse atrophiante et albo-papuloide. Ann Dermatol Syphilgr (Paris) 9:1044–1066

    Google Scholar 

  • Pigors M, Kiritsi D, Krümpelmann S et al (2011) Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 20:1811–1819

    Article  CAS  PubMed  Google Scholar 

  • Siemens HW (1921) Zur Klinik, Histologie und Ätiologie der sog. Epidermolysis bullosa traumatica (Bullosis mechanica) mit klinisch experimentellen Studien über die Erzeugung von Reibungsblasen. Arch Dermatol Syph (German) 134:454–477

    Article  Google Scholar 

  • Touraine MA (1942) Classification des épidermolysesbulleuses. Ann Dermatol Syph 2:138–144

    Google Scholar 

  • Vidal F, Aberdam D, Miquel C et al (1995) Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10:229–234

    Article  CAS  PubMed  Google Scholar 

  • Weber FP (1926) Recurrent bullous eruption on the feet of a child. Proc R Soc Med 19:72

    CAS  PubMed  PubMed Central  Google Scholar 

  • Whittock NV, Wan H, Morley SM et al (2002) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232–238

    Article  CAS  PubMed  Google Scholar 

  • Winik BC, Asial RA, McGrath JA et al (2009) Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol 160:868–874

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland

    Cristina Has

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  1. Cristina Has
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Correspondence to Cristina Has .

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Editors and Affiliations

  1. Dermatologie und Allergologie, Universitätsklinikum München Klinik und Poliklinik für, München, Bayern, Germany

    Gerd Plewig

  2. Dermatologie und Allergologie, Universitätsklinikum München Klinik und Poliklinik für, München, Bayern, Germany

    Thomas Ruzicka

  3. J.W.Goethe-Universität, Klinik für Dermatologie, Venerologie und Allergologie, Frankfurt, Hessen, Germany

    Roland Kaufmann

  4. Univ.Klinikum Marburg Klinik für Dermatologie und Allergologie, Marburg, Germany

    Michael Hertl

Section Editor information

  1. Zentrum für Hautkrankheiten, Deutschhausstraße 9, 35037, Marburg, Germany

    Michael Hertl

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Has, C. (2016). Hereditäre Epidermolysen. In: Plewig, G., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco's Dermatologie, Venerologie und Allergologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49546-9_48-2

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  • DOI: https://doi.org/10.1007/978-3-662-49546-9_48-2

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  • Print ISBN: 978-3-662-49546-9

  • Online ISBN: 978-3-662-49546-9

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