HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
An autosomal dominant inherited, blistering, generalized form of the Epidermolysis simplex belonging to the Epidermolysis bullosa simplex group, which is already present at birth.
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Occurrence/EpidemiologyThis section has been translated automatically.
The incidence of Epidermolysis bullosa simplex Köbner is 1:500.000. These figures are subject to considerable regional variations.
EtiopathogenesisThis section has been translated automatically.
Mostly autosomal dominant, rarely autosomal recessive inheritance.
- Autosomal dominant inheritance is point mutations in the keratin genes 5 and 14, which are mapped on the genloci 12q13, 17q12 and 17q21. This results in disorders in the keratin filament network ( cytoskeleton) of the basal keratinocytes.
- Autosomal recessive homozygous keratin 5 and 14 null mutations are inherited.
- A homozygous nonsense mutation leads to a deletion/insertion mutation (744delC/insAG), which in turn causes a disorder in the KRT14 gene (Y248X).
- Another mutation affects the COL17A1 gene (type XVII collagen)
- The itching present in the disease appears to be partly caused by the increased messenger substance"Thymic Stromal Lymphopoietin - TSLP".
ManifestationThis section has been translated automatically.
Mostly from birth. Blistering in mechanically exposed areas (diaper rims; contact areas).
LocalizationThis section has been translated automatically.
On hands, feet, trunk and head. In the crawling age of children also on knees and elbows.
Clinical featuresThis section has been translated automatically.
Fragile skin covered by blisters and crusts with bulging serous or haemorrhagic blisters of various sizes, which are triggered by solid mechanical stimuli or heat. Thus, blister formation in infancy can be found at the friction points of diapers, later on hands and feet, knees and elbows. The blisters heal scarred and also scarless. Emerging scars can later show hyperpigmentation. The tendency to blistering is significantly increased at warm ambient temperatures. The tendency to blistering decreases in later life.
- Slight to moderate involvement of the oral and nasal mucous membranes (50-75%)
- Larynx (1-10%), danger of laryngeal stenosis
- Oesophageal involvement (10-25%)
- Dental anomalies (10-15%)
HistologyThis section has been translated automatically.
- Epidermolytic blistering.
- Electron microscopic: the EM finding is not distinguishable from the EBS Weber-Cockayne. Intracellular cytolysis above the hemidesmosomes in the basal keratinocytes.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
Purely symptomatic; avoidance of trauma.
External therapyThis section has been translated automatically.
Internal therapyThis section has been translated automatically.
Progression/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Fine JD 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 JD 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
- Galligan P (1998) A novel mutation in the L12 domain of keratin 5 in the Kobner variant of epidermolysis bullosa simplex. J Invest Dermatol 111: 524-52
- Höger P (2005) Child dermatology. Schattuer Publishing House, Stuttgart S. 225-226
- Intong LR et al (2012) Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol 30:70-77
- Köbner H (1886) Epidermolysis bullosa heriditaria. German Med Weekly 12: 781-783
- Kumar V et al (2016) Keratin-dependent thymic stromal lymphopoietin expression suggests a link betweenskin
blistering and atopic disease. J Allergy Clin Immunol 138:1461-1464.
- Laimer M et al (2015) Hereditary epidermolyses JDDG 13: 1125-1134
- Rubin AI et al (2002) A listing of skin conditions exhibiting the koebner and pseudo-koebner phenomena with eliciting stimuli. J Cutan Med Surg 6: 29-34
- Shirakata Y et al (2003) Severe palmo-plantar hyperkeratosis in koebner epidermolysis bullosa simplex. J Dermatol 30: 135-140
- Sørensen CB ET AL: (2000) Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients. Ugeskr Laeger 162:1873-!876
Incoming links (10)Acrodermatitis enteropathica; Diseases of gold division; Epidermolysis bullosa simplex with mottled pigmentation; Generalized intermediate epidermolysis bullosa simplex; Keratin; Koebner heinrich; Koebner's disease; KRT14 Gene; Pemphigus héréditaire traumatique; Thymic stromal lymphopoietin;
Outgoing links (6)Cytoskeleton; Epidermolysis bullosa hereditaria (overview); Glucocorticosteroids systemic; Hyperhidrosis (overview); Palmoplantar keratoses (overview); Thymic stromal lymphopoietin;
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