Bullous dystrophy, macular type

A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.

Also known as: EBM, bullous dystrophy hereditary macular type, bullous dystrophy, hereditary macular type, epidermolysis bullosa macular type, epidermolysis bullosa, macular type

0 clinical trials for this condition and its sub-types, 0 tagged with Bullous dystrophy, macular type itself.