In congenital dystrophic variety of epidermolysis bullosa, mutation is seen in the gene coding for:
Correct Answer: Collagen type 7
Description: Dystrophic Epidermolysis Bullosa (DEB): It is a spectrum of dermolytic diseases where blistering occurs below the basal lamina; healing is therefore usually accompanied by scarring and milia formation--hence, the name dystrophic. There are four principal subtypes, and all are due to mutations in anchoring fibril type VII collagen. Anchoring fibrils are therefore only rudimentary or absent. Of the four main types of DEB, dominant DEB or Cockayne-Touraine disease and recessive DEB (RDEB) are impoant. There is as yet no causal therapy for EB, but gene therapy is being investigated. Ref: Suurmond D. (2009). Section 6. Bullous Diseases. In D. Suurmond (Ed), Fitzpatrick's Color Atlas & Synopsis of Clinical Dermatology, 6e.
Category:
Skin
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now