Journal article
Epidermolysis bullosa dystrophica inversa in a child.
- Bruckner-Tuderman L Department of Dermatology, University Hospital, Zürich, Switzerland.
- Pfaltz M
- Schnyder UW
- 1990-06-01
Published in:
- Pediatric dermatology. - 1990
Autoantibodies
Autoantigens
Carrier Proteins
Child, Preschool
Collagen
Cytoskeletal Proteins
Dystonin
Epidermolysis Bullosa
Female
Fluorescent Antibody Technique
Humans
Laminin
Nerve Tissue Proteins
Non-Fibrillar Collagens
Skin
English
A 4-year-old child with dystrophic epidermolysis bullosa inversa is described. Clinical features were blistering of the skin, erosions, scarring and milia formation. The areas involved included the trunk, with preference for the axillary and inguinal folds, the neck and sacral area, and proximal extremities. Notably, the hands and feet were completely spared, with only mild nail dystrophy. Ultrastructural analysis revealed dermolytic blistering and absent or rudimentary anchoring fibrils. Collagen VII, the main structural protein of these fibrils, was present in the skin, as shown by indirect immunofluorescence. These findings suggest that a mutation that prevents appropriate supramolecular aggregation of collagen VII into anchoring fibrils may underlie this subtype of dystrophic epidermolysis bullosa in some patients.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1111/j.1525-1470.1990.tb00666.x
- PMID 2193305
- Persistent URL
- https://sonar.ch/global/documents/3361
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