Conflict of interest: The authors declare that they have no conflicts of interest.
Clinical dermatology ● Concise report
Kindler syndrome with severe mucosal involvement in childhood
Article first published online: 18 MAR 2014
© 2014 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 39, Issue 3, pages 340–343, April 2014
How to Cite
Krishna, C. V., Parmar, N. V. and Has, C. (2014), Kindler syndrome with severe mucosal involvement in childhood. Clinical and Experimental Dermatology, 39: 340–343. doi: 10.1111/ced.12293
- Issue published online: 18 MAR 2014
- Article first published online: 18 MAR 2014
- Manuscript Accepted: 20 NOV 2013
Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and is characterized clinically by trauma-induced acral skin blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. We report a case of KS in a 7-year-old Indian girl with severe mucosal involvement of the oral cavity and genitourinary tract. Mutation analysis in the girl showed a homozygous FERMT1 mutation, c.862C>T, p.R288*. The clinical manifestations in patients with KS show significant inter individual variation, even with the same type of mutations and within members of the same family. Our case highlights the role of environmental modifiers in regulating the clinical features of KS.