Newly Identified COL7A1 Mutation May Cause Rare DEB Subtype

Newly Identified COL7A1 Mutation May Cause Rare DEB Subtype

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Newly Identified COL7A1 Mutation May Cause Rare DEB Subtype

A 47-year-old woman with a newly described COL7A1 gene mutation was diagnosed with dystrophic epidermolysis bullosa (DEB), and possibly an unusual subtype affecting the extremities. She had a history of severe toenail alterations and periods of blistering skin since childhood. “Given the patient’s history, as well as the clinical and genetic findings, the patient may have a rare subtype of DEB, which is referred to as pruriginosa subtype,” the researchers wrote. The case study, “Novel heterozygous…

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