A SCLERODERMA-LIKE VARIANT OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

We report a 17-year-old Japanese girl with typical clinical features of recessive dystrophic epidermolysis bullosa (RDEB). She had initially been diagnosed as suffering from systemic sclerosis because her skin became sclerotic at the age of 21 months, and there was no apparent blister formation. She subsequently developed severe dystrophic skin changes. However, there was histological evidence of subepidermal cleavage, diminished basement membrane zone immunohistochemical reactivity to anti-type VII collagen monoclonal antibody, and markedly decreased numbers of anchoring fibrils on electron microscopy. Although both the clinical and laboratory findings support a diagnosis of RDEB, we cannot exclude the possibility that our patient might represent a new clinical entity.