Conflict of interest: none declared.
Clinical dermatology ● Concise Report
A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations
Article first published online: 17 DEC 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 39, Issue 1, pages 30–34, January 2014
How to Cite
Vahlquist, A., Virtanen, M., Hellström-Pigg, M., Dragomir, A., Ryberg, K., Wilson, N. J., Östman-Smith, I., Lu, L., McGrath, J. A. and Smith, F. J. D. (2014), A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations. Clinical and Experimental Dermatology, 39: 30–34. doi: 10.1111/ced.12226
- Issue published online: 17 DEC 2013
- Article first published online: 17 DEC 2013
- Manuscript Accepted: 10 MAY 2013
- Uppsala University Hospital
- Welander Foundation
- Pachyonychia Congenita Project
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 cellular cohesion in both epithelia and cardiac tissues. Desmoplakin is encoded by the DSP gene, which is localized on chromosome 6p24. Both dominant and recessive mutations in this gene have been reported to cause skin fragility and keratinization defects. We report a child born with a fragile epidermis, alopecia, thick nails, and focal hyperkeratoses on the digits and knees. She was found to have a deficiency of desmoplakin caused by compound heterozygous DSP mutations. She has gradually developed signs of a left ventricular cardiomyopathy.