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.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019268
epidermal disease
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
EBM
related
bullous dystrophy hereditary macular type
related
epidermolysis bullosa macular type
related