"Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

We describe a case of dystrophic epidermolysis bullosa which occurred in a young boy who presented thickened and dystrophic nails both in hands and fe et, atrophic scars on the elbows and knees, some large bullae and milia on the hands and ankles. The parents were clinically unaffected and the family medical history was negative for blistering disease. The immunofluorescenc e for type VII collagen was positive, yet low in intensity and the number o f anchoring fibrils was reduced, as revealed by transmission electron micro scopy, The diagnosis of a "sporadic" case of dominant dystrophic epidermolysis bul losa was suggested, although a mitis case of recessive dystrophic epidermol ysis bullosa cannot be excluded on the basis of clinical, immunofluorescent and ultrastructural examination. However recent studies, carried out in a series of seemingly sporadic cases , have pointed out the possibility of inheritance of two mutant alleles fro m unaffected parents. This implies that 'mild' recessive dystrophic epiderm olysis bullosa is commoner than once thought. This information is important for genetic counselling and determination of recurrence risk in the presen t and future generations.