Epidermolysis bullosa simplex generalized intermediaries (köbner) Q81.0

An autosomal dominant inherited, blistering, generalized form of the Epidermolysis simplex belonging to the Epidermolysis bullosa simplex group, which is already present at birth.

The incidence of Epidermolysis bullosa simplex Köbner is 1:500.000. These figures are subject to considerable regional variations.

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".

Mostly from birth. Blistering in mechanically exposed areas (diaper rims; contact areas).

On hands, feet, trunk and head. In the crawling age of children also on knees and elbows.

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.

Associated symptoms:

• 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%)
• furthermore:
  • Growth retardation (1-10%)
  • Anemia (10-25%)
  • eye involvement (1-10%),
  • Localized palmoplantar keratoses and hyperhidrosis are frequent concomitant phenomena, as are nail dystrophies.

• Epidermolytic blistering.
• Electron microscopic: the EM finding is not distinguishable from the EBS Weber-Cockayne. Intracellular cytolysis above the hemidesmosomes in the basal keratinocytes.

S.u. Epidermolysis bullosa group.

Purely symptomatic; avoidance of trauma.

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