Article
A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.
Clinical and experimental dermatology - 1 Jan 2014
Vahlquist A, Virtanen M, Hellström-Pigg M, Dragomir A, Ryberg K, Wilson N J, Östman--Smith I, Lu L, McGrath J A, Smith F J D
Abstract excerpt
Congenital skin fragility is a heterogeneous disorder with epidermolysis bullosa and various skin infections as the leading causes. However, even rare diseases must be considered in the differential diagnosis of neonatal skin blistering, including some genetic syndromes with extracutaneous involvement. One such syndrome is ectodermal dysplasia due to deficiency of desmoplakin, a desmosomal protein essential for...
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