Structural and functional properties of the dermoepidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa.
To determine whether heterozygotes for the severe recessive forms of epidermolysis bullosa (EB) partially express characteristic structural or functional abnormalities of the dermoepidermal junction, and thereby allow detection of the carrier state, a controlled morphometric analysis of the junction and the measurement of suction blister times were undertaken in obligate heterozygotes for junctional EB and generalized-recessive dystrophic EB. Skin from generalized recessive dystrophic EB carriers had significantly reduced numbers of anchoring fibrils, and suction blisters showed a tendency to form more rapidly in junctional EB carriers. However, neither of these abnormalities is sufficiently large or consistent to enable the reliable identification of the respective heterozygote state.
D000293:Adolescent; D000328:Adult; D001132:Arm; D002462:Cell Membrane / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000503:physiopathology; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000379:methods; D005817:Genetic Counseling; D006801:Humans; D007866:Leg; D008854:Microscopy, Electron; D012867:Skin / Q000503:physiopathology* / Q000648:ultrastructure