Rare Diseases Symptoms Automatic Extraction

Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss. We performed scanning electron microscopy of an inverted blister roof of a case of dystrophic epidermolysis bullosa, confirmed by immunomapping and gene sequencing. With a magnification of 2000 times a net attached to the blister roof could be easily identified. This net was composed of intertwined flat fibers. With higher magnifications, different fiber sizes could be observed, some thin fibers measuring around 80 nm and thicker ones measuring between 200 and 300 nm.

Diseases presenting "different fiber sizes could be observed" symptom

  • dystrophic epidermolysis bullosa

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