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Bart's syndrome. Ultrastructure and genetic linkage
B Zelickson1, K Matsumura, D Kist
1Department of Dermatology, University of Minnesota, Minneapolis, USA.
Archives of Dermatology
|June 1, 1995
Summary
Bart's syndrome, a skin disorder with blistering and nail abnormalities, is classified as a subtype of dystrophic epidermolysis bullosa. This genetic disorder affects anchoring fibrils and is linked to chromosome 3p.
Area of Science:
- Dermatology
- Genetics
- Molecular Biology
Background:
- Bart's syndrome, first described in 1966, presents with congenital skin absence, blistering, and nail defects.
- Previous classifications were uncertain due to limited diagnostic technologies at the time of initial description.
- The syndrome was suspected to be one of three subtypes of epidermolysis bullosa: epidermal, junctional, or dermal.
Purpose of the Study:
- To clarify the classification of Bart's syndrome.
- To investigate the clinical, ultrastructural, immunohistologic, and genetic features of the original Bart's syndrome kindred and their descendants.
Main Methods:
- Clinical evaluation and questionnaires for family members and descendants.
- Skin biopsy for ultrastructural and immunochemical analysis.
- Genetic linkage studies using blood samples from affected and unaffected family members.
Main Results:
- Clinical findings consistent with the original description, with added observations of persistent blistering into adulthood and scarring.
- Ultrastructural analysis revealed poorly formed anchoring fibrils and cleavage below the lamina densa.
- Genetic linkage mapped the disease gene to chromosome 3p, near the type VII collagen gene, with immunohistochemistry showing normal type VII collagen distribution in unaffected skin.
Conclusions:
- Bart's syndrome is a subtype of dominantly inherited dystrophic epidermolysis bullosa.
- The genetic defect is associated with the gene encoding type VII collagen.