Abstract
Background Epidermolysis bullosa dystrophica is a rare genetic disease involving skin fragility, resulting in blistering of the skin either spontaneously or following minor skin contact, or trauma. Mutations in COL7A1 gene are associated with all forms of dystrophic epidermolysis bullosa. The gene which is present on the short arm of chromosome 3, codes for a protein called Collagen alpha-1(VII) chain which functions as an anchoring fibril between the external epithelia and the underlying stroma. The aim was to examine a de novo Mutation in Gene causing Epidermolysis bullosa dystrophica in a thirty year old female patient.
Highlights
Epidermolysis bullosa dystrophica is a rare genetic disease involving skin fragility, resulting in blistering of the skin either spontaneously or following minor skin contact, or trauma
Mutations in COL7A1 gene are associated with all forms of dystrophic epidermolysis bullosa
The gene which is present on the short arm of chromosome 3, codes for a protein called Collagen alpha-1(VII) chain which functions as an anchoring fibril between the external epithelia and the underlying stroma
Summary
Epidermolysis bullosa dystrophica is a rare genetic disease involving skin fragility, resulting in blistering of the skin either spontaneously or following minor skin contact, or trauma. Autosomal Dominant Mutation in COL7A1 Gene causing Epidermolysis Bullosa Dystrophica From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. Background Epidermolysis bullosa dystrophica is a rare genetic disease involving skin fragility, resulting in blistering of the skin either spontaneously or following minor skin contact, or trauma. Mutations in COL7A1 gene are associated with all forms of dystrophic epidermolysis bullosa.
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