hereditary disease skin disorder bullous dystrophy, macular type https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type https://www.malacards.org/card/hereditary_bullous_dystrophy_macular_type bullous dystrophy, hereditary macular type epidermolysis bullosa 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. UMLS:C0795974 Orphanet:1867 MESH:C563065 MONDO:0010540 bullous dystrophy hereditary macular type OMIM:302000 GARD:0001038 EBM epidermolysis bullosa, macular type MEDGEN:167089 epidermal disease X-linked syndromic intellectual disability