Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. (April 2014)

• Record Type: Journal Article
• Authors: Chiaverini, C.; Charlesworth, A.; Fernandez, A.; Barbarot, S.; Bessis, D.; Bodemer, C.; Bursztejn, A.‐C.; Cobo, A.‐M.; Del Rio, M.; D'Incan, M.; Labrèze, C.; Langlet, C.; Mazereeuw, J.; Miquel, J.; Vabres, P.; Meneguzzi, G.; Lacour, J.‐P.
• Is Part Of: British journal of dermatology. Volume 170:Number 4(2014:Apr.)
• Page Start: 901
• Page End: 906
• Publication Date: 2014-04
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.12741
• Languages: English
• ISSNs: 0007-0963

Abstract

<abstract abstract-type="short" xml:lang="en" id="bjd12741-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="bjd12741-list-0001" list-type="bullet"> <list-item> <p>Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic EB (DEB).</p> </list-item> <list-item> <p>To date, only a few patients with DEB specifically combined with ACC have been described and genotyped and almost all cases represent dominant forms of the condition.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> </p> <p> <list id="bjd12741-list-0002" list-type="bullet"> <list-item> <p>Our findings suggest that ACC is a frequent manifestation in patients with DEB irrespective of the severity of the disease and is due to leg rubbing <italic>in utero</italic>.</p> </list-item> <list-item> <p>In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the triple helix domain interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon.</p> </list-item> </list> </p> </abstract>