KRT1-related diffuse nonepidermolytic keratoderma

KRT1-related diffuse nonepidermolytic keratoderma (also called diffuse nonepidermolytic palmoplantar keratoderma type Unna-Thost, or simply DNEPK) is a rare inherited skin condition caused by changes in the KRT1 gene. This gene provides instructions for making keratin 1, a protein that helps give skin its strength and structure. When this gene does not work properly, the skin on the palms of the hands and soles of the feet becomes abnormally thick, hard, and rough. This thickening is called keratoderma. The main symptom is a diffuse, even thickening of the skin across the entire surface of the palms and soles, usually without blistering. The skin may appear yellowish and feel very tough. Some people also notice that the thickened skin extends slightly onto the tops of the feet or hands. Sweating in these areas can be increased, which may lead to an unpleasant odor or secondary fungal and bacterial infections. There is currently no cure for this condition. Treatment focuses on managing symptoms, mainly by softening and reducing the thick skin using moisturizers, keratolytic creams (products that help break down thickened skin), and careful physical removal of excess skin. With consistent daily skin care, most people can manage their symptoms and live full, active lives. The condition is lifelong but does not affect internal organs or shorten life expectancy.

Bring these to your next appointment

• Q1.What is the best daily skin care routine for managing the thick skin on my palms and soles?,Which moisturizers or keratolytic creams do you recommend, and how often should I use them?,How can I tell if a skin infection is developing, and when should I seek urgent care?,Should other family members be tested for this condition, and what does a positive result mean for them?,Are there any clinical trials or new treatments being studied that I should know about?,What type of footwear or orthotics would help reduce pain and prevent skin breakdown?,Are there any activities or occupations I should avoid because of this condition?

Common questions about KRT1-related diffuse nonepidermolytic keratoderma