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2015 ; 8
(ä): 275-84
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Dystrophic epidermolysis bullosa: a review
#MMPMID26064063
Shinkuma S
Clin Cosmet Investig Dermatol
2015[]; 8
(ä): 275-84
PMID26064063
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Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused
by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or
dysfunction of type VII collagen leads to subepidermal blistering immediately
below the lamina densa, resulting in mucocutaneous fragility and disease
complications such as intractable ulcers, extensive scarring, malnutrition, and
malignancy. The disease is usually diagnosed by immunofluorescence mapping and/or
transmission electron microscopy and subsequently subclassified into one of 14
subtypes. This review provides practical knowledge on the disease, including new
therapeutic strategies.