Hereditäre blasenbildende Hauterkrankungen

Zusammenfassung

Die Epidermolysis bullosa hereditaria (EB) ist eine Gruppe von seltenen genetisch bedingten Hautkrankheiten, bei denen geringfügige Verletzungen zur Blasenbildung der Haut und der hautnahen Schleimhäute führen. Kausal für die EB verantwortlich sind Mutationen in Genen für Strukturproteine der dermo-epidermalen Junktionszone. Da die EB in der Praxis nur selten anzutreffen ist, sind in allen Phasen der Diagnostik und Betreuung spezialisierte EB-Zentren geeignete Ansprechpartner für Patienten und betreuende Ärzte.

Summary

Epidermolysis bullosa is a group of rare genetic disorders characterized by mechanically induced blistering of the skin and mucous membranes. The causative mechanisms are based on mutations in genes for structural proteins of the dermal-epidermal junction zone. For diagnostics and management specialized centres are available.

Schlüsselwörter

Epidermolysis bullosa - Kindler-Syndrom - chronische Wunde

Keywords

Epidermolysis bullosa - Kindler syndrome - chronic wound

• Literatur

• 1 Bruckner-Tuderman L. Epidermolysis bullosa. In: Royce PM, Steinmann B. (eds). Connective tissue and its heritale disorders. Molecular, genetic and medical aspects. 2nd ed.. New-York: Wiley-Liss; 2002: 689-725.
• 2 Fine JD, Eady RA, 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: 1051-66.
• 3 Floeth M, Fiedorowicz J, Schacke H. et al. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. J Invest Dermatol 1998; 111: 528-33.
• 4 Has C, Bruckner-Tuderman L. Molecular and diagnostic aspects of genetic skin fragility. J Dermatol Sci 2006; 44: 129-44.
• 5 Has C, Chang YR, Volz A. et al. Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex. J Invest Dermatol 2006; 126: 1912-4.
• 6 Has C, Kern JS, Bruckner-Tuderman L. Hereditary blistering disorders. Hautarzt 2004; 55: 920-22 930.
• 7 Jobard F, Bouadjar B, Caux F. et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003; 12: 925-35.
• 8 Jonkman MF, Pasmooij AM, Pasmans SG. et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005; 77: 653-60.
• 9 Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2006; 126: 1006-12.
• 10 Muhle C, Jiang QJ, Charlesworth A. et al. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet 2005; 116: 33-42.
• 11 Nakamura H, Sawamura D, Goto M. et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn 2005; 7: 28-35.
• 12 Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol 2005; 14: 241-9.
• 13 Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005; 124: 111-15.
• 14 Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol 2005; 125: 239-43.
• 15 Siegel DH, Ashton GH, Penagos HG. et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73: 174-87.
• 16 Volz A, Has C, Schumann H, Bruckner-Tuderman L. Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches. J Dtsch Dermatol Ges 2007; 5: 274-9.
• 17 White SJ, McLean WH. Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci 2005; 38: 169-75.