Epidermolysis bullosa junctionalis with pyloric atresia Q81.8

Autosomal recessive inheritance. Homozygous or "compound" heterozygous mutations in ITGA6 and ITGB4 genes encoding the polypeptide chains of alpha6 and beta4 integrin. Mapping occurs on chromosomes 2q and 17q11-qter. Many mutations are due to the development of a stop codon, resulting in the absence of the protein in the skin and mucosa.

Integument: Large, flaccid blisters of varying size with serous or haemorrhagic contents over the entire integument and oral mucosa, and marked erosions. Frequent onychoatrophy or onychodystrophy.

Extracutaneous manifestations: Severe pyloric stenosis or atresia. Involvement of the eyes (blisters, scarring ectropion, corneal or conjunctival erosions), involvement of the esophagus, trachea or bronchi.

Subepidermal, in rare cases also intradermal blister formation. Predominantly bullous detached epidermis with well preserved basal cell row in the blister roof. Distinct lymphohistiocytic infiltrates in the upper corium.

Electron microscopy: junktiolytic blister formation, reduction of the number or appearance of morphologically altered hemidesmosomes.

Surgical removal of the pyloric atresia in the first days of life.

Avoidance of mechanical trauma, positioning on special air- or water-padded beds, soft clothing, if necessary wearing the clothing from the left side to avoid chafing effects at the sutures.

Careful body care with disinfecting baths and sterile covering of blisters and erosions.

Depending on the responsible mutations and the severity of skin and mucosal involvement.

In severe cases, lethal course, similar to epidermolysis bullosa junctionalis, Herlitz.

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