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KMID : 1101620230340020094
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Perinatology
2023 Volume.34 No. 2 p.94 ~ p.98
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Newborn with Dominant Dystrophic Epidermolysis Bullosa That Manifested as Aplasia Cutis Congenita at Birth
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Macarena Lozano-Lorca
Bae Seong-Phil
Lee Sang-Gyun
Lee Sang-Eun
Hahn Won-Ho
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Abstract
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Dystrophic epidermolysis bullosa caused by a mutation in the COL7A1 gene that encodes for type VII collagen is a rare inherited skin disorder characterized by mucocutaneous fragility, resulting in blisters and healing with scarring and milia. We report a case of a newborn with skin ulcerations and aplasia found on the anteromedial aspects of both lower extremities at birth. From three days after birth, he showed repeated blister formation on the wrist, ankle, and dorsal surface of the foot. He received conservative treatment including skin dressing. After discharge, additional tests were performed for a definite diagnosis. The expression of type VII collagen was markedly decreased in immunofluorescence mapping and a mutation in COL7A1 gene was identified by next-generation sequencing. He was diagnosed with a dominant dystrophic epidermolysis bullosa with aplasia cutis congenita.
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KEYWORD
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Epidermolysis bullosa dystrophica, Ectodermal dysplasia, Blister, Collagen type VII, Genetic testing
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