Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
- Alessandro Terrinoni,
- Biagio Didona,
- Sabrina Caporali,
- Giovanni Chillemi,
- Alessandro Lo Surdo,
- Mauro Paradisi,
- Margherita Annichiarico-Petruzzelli,
- Eleonora Candi,
- Sergio Bernardini,
- Gerry Melino
PLoS One 2018 24;13(4):e0195792. Epub 2018 Apr 24.
Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome, Italy.
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in an aberrant and truncated protein tail, essentially affecting the function of the V2 domain. Read More