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Epidermolysis Bullosa Dystrophica Inversa in a Child
Author(s) -
BrucknerTuderman Leena,
Pfaltz Madeleine,
Schnyder Urs W.
Publication year - 1990
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1990.tb00666.x
Subject(s) - epidermolysis bullosa dystrophica , medicine , epidermolysis bullosa , milia , anchoring fibrils , dermatology , trunk , fibril , dystrophy , pathology , anatomy , ultrastructure , ecology , biology , genetics
A 4‐year‐old child with dystrophic epidermolysis bullosa inverse 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.