We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome.
- Connexin 30
- Nail dystrophy
- Pachyonychia congenita
van Steensel, M., Jonkman, M. F., van Geel, M., Steijlen, P. M., McLean, I., & Smith, F. (2003). Clouston syndrome can mimic pachyonychia congenita. Journal of Investigative Dermatology, 121(5), 1035-1038. https://doi.org/10.1046/j.1523-1747.2003.12527.x