Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study (pages 901–906)
C. Chiaverini, A. Charlesworth, A. Fernandez, S. Barbarot, D. Bessis, C. Bodemer, A.-C. Bursztejn, A.-M. Cobo, M. Del Rio, M. D'Incan, C. Labrèze, C. Langlet, J. Mazereeuw, J. Miquel, P. Vabres, G. Meneguzzi and J.-P. Lacour
Version of Record online: 15 APR 2014 | DOI: 10.1111/bjd.12741
What's already known about this topic?
- Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic EB (DEB).
- 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.
What does this study add?
- 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 triple helix domain interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon.