progressive symmetric erythrokeratoderma
Posted on by Dr. Francis Collins
Skin is the largest organ in the human body, yet we often take for granted all of the wonderful things that it does to keep us healthy. That’s not the case for people who suffer from a group of rare, scale-forming skin disorders known as ichthyoses, which are named after “ichthys,” the Greek word for fish.
Each year, more than 16,000 babies around the world are born with ichthyoses , and researchers have identified so far more than 50 gene mutations responsible for various types and subtypes of the disease. Now, an NIH-funded research team has found yet another genetic cause—and this one has important implications for treatment. The new discovery implicates misspellings in a gene that codes for an enzyme playing a critical role in building ceramide—fatty molecules that help keep the skin moist. Without healthy ceramide, the skin develops dry, scale-like plaques that can leave people vulnerable to infections and other health problems.
Two patients with this newly characterized form of ichthyosis were treated with isotretinoin (Accutane), a common prescription acne medication, and found that their symptoms resolved almost entirely. Together, the findings suggest that isotretinoin works not only by encouraging the rapid turnover of skin cells but also by spurring patients’ skin to boost ceramide production, albeit through a different biological pathway.
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Tags: Accutane, acne medication, ceramide, dermatology, dry skin, exome, exome sequencing, genetics, genome, ichthyosis, isotretinoin, KDSR, National Registry for Ichthyosis and Related Skin Disorders, progressive symmetric erythrokeratoderma, PSEK, rare disease, skin, skin diseases, skin health