Epithelia form a variety of barrier tissues that are specialised to protect the human body from the external environment. The largest and most complex of epithelial tissues is the epidermis, which forms the first line of defense against the outside
We recently identified a new gene causing a painful and debilitating skin disorder, punctate palmoplantar keratoderma (also known as punctate PPK or PPKP1). The results were published in the top genetics journal Nature Genetics and widely reported in the media (click here for press release).
If you suffer from this or a similar skin condition causing overgrowth of thick skin on palms and soles (there are many related subtypes of this condition) and need patient support, genetic diagnosis or would like to get involved in research, please contact us.
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- Irvine AD and McLean WHI (1999) Human keratin diseases: the increasing spectrum of disease and the subtlety of phenotype-genotype correlation. Br J Dermatol 140:815-828 (PubMed ID: 10354017)
- Smith FJD et al., (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nature Genetics 38:337-342 (PubMed ID: 16444271)
- Wilson NJ et al., (2010) Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol 130:425-429 (PubMed ID: 19609311)
- McLean WHI and Moore CBT (2011) Keratin disorders: from gene to therapy. Hum Mol Genet 20:R189-197 (PubMed ID: 21890491)
- Pohler E et al., (2012) Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nature Genetics doi: 10.1038/ng.2444. [Epub ahead of print 14th Oct 2012] (PubMed ID: 23064416)