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  • Title: Denuded congenital lesions: recessive dystrophic epidermolysis bullosa.
    Author: Fleming KF, Wu JJ, Dyson SW, Dadras SS, Metz BJ.
    Journal: Dermatol Online J; 2009 Apr 15; 15(4):4. PubMed ID: 19450397.
    Abstract:
    Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens type) (RDEB-HS) is a rare severe mechanobullous disorder resulting from a defect in collagen VII. Patients with RDEB-HS present with generalized blistering and denudation of the skin at birth and have mucosal involvement. The repeated blistering leads to scarring, which may be deforming and result in serious complications. Transmission electron microscopy is currently the gold standard for diagnosis of RDEB-HS.
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