Epidermolysis bullosa junctionalis with pyloric atresia Q81.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 15.01.2022

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Synonym(s)

EBJ with pyloric atresia; JEB with pyloric atresia

Definition
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Rare, hereditary dermatosis with massive blistering of the skin and mucous membranes and pyloric atresia.

Etiopathogenesis
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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.

Manifestation
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Congenital or in the first days of life.

Clinical features
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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.

Histology
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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.

General therapy
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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.

External therapy
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Symptomatic (see Epidermolysis bullosa group). Dressing with hydrogels (e.g. Intrasite) or hydrocolloid foils (e.g. Varihesive E).

Internal therapy
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Glucocorticoids such as prednisolone, medium to high doses 60-120 mg/day (e.g. Decortin H), later minimal maintenance therapy can be life-saving. In case of superinfection or even sepsis, antibiotics should be administered in time.

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

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

Literature
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  1. Ashton GH et al (2001) Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br J Dermatol 144: 408-414.
  2. Gahukamble DB, Gahukamble LD (2001) Junctional epidermolysis bullosa lethalis with pyloric and anorectal obstruction. Pediatr Surg Int 17: 472-474
  3. Maman E et al (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. Am J Med Genet 78: 127-133.
  4. Mellerio JE et al (1998) Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol 139: 862-871.
  5. Morrell DS et al (2001) Junctional epidermolysis bullosa with pyloric stenosis. Pediatr Dermatol 18: 539-540.
  6. Pulkkinen L et al (1998) Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet 63: 1376-1387.
  7. Puvabanditsin S et al (2001) Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. J Am Acad Dermatol 44: 330-335.
  8. Vidal F et al (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 10: 229-234

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 15.01.2022