Abstract
A case of epidermolysis bullosa hereditaria in a 27-year-old man was presented. None of other members of his family and close relatives had similar disease and there was no consanguinity.
From birth, he had generalized blisters and erosions which healed with scars and milia. Repeated blistering led to digital fusions and flexual contractures of the knees. The oral mucosa was also involved and corneal erosions were seen. In addition, the case was accompanied with ureteral stenosis, hydronephrosis, primary hypothyroidism and secondary gonadal dysgenesis.
Histopathologically, early blister showed subepidermal bulla on light microscopy. On electron microscopy in normal-appearing skin in the vicinity of the blister, degenerations of the collagen were observed in the upper dermis and the anchoring fibrils were diminished.
From the above findings, the present case was diagnosed to be the Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa.
Japanese cases of recessive dystrophic epidermolysis bullosa were collected in the literature and the statistical survey was made.
