Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study
British Journal of Dermatology2013Vol. 170(4), pp. 901–906
Citations Over TimeTop 19% of 2013 papers
C. Chiavérini, A. Charlesworth, Arnaud Fernandez, S. Barbarot, D. Bessis, Christine Bodemer, A.‐C. Bursztejn, A.-M. Cobo, Marcela Del Río, M. D’Incan, Christine Labrèze, C. Langlet, J. Mazereeuw‐Hautier, J. Miquel, P. Vabres, Guerrino Meneguzzi, J.‐P. Lacour
Abstract
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 in utero. In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the THD interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon.
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