Self-healing localized congenital dystrophic epidermolysis bullosa.
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How to Cite
Torsello P. 2013. Self-healing localized congenital dystrophic epidermolysis bullosa. Eur. J. Pediat. Dermatol. 23 (2): 115.
pp. 115
Abstract
In this case a careful history and physical examination allowed to diagnose congenital epidermolysis bullosa; we are dealing with the dystrophic localized variant as evidenced by the presence only on the hands and feet of nail changes, scars and milia. Despite the apparent severity at birth, it was also in that time a localized form of the hands and feet, without involvement of other skin sitesor locations to the oral cavity, to the digestive tract or the eye. In the absence of a family history, only a molecular investigation can clarify the genetic alteration and perhaps distinguish between an autosomal dominant and autosomal recessive form, with consequent effects on the genetic counseling. It is also interesting to note the persistence of milia in the absence of other clear blistering manifestations.
Keywords
Congenital epidermolysis bullosa, Localized dystrophic variant, milia