Skin Health: New Insights from a Rare Disease

Forehead of study participant with rare form of ichthyosis

Courtesy of Keith Choate, Yale University School of Medicine, New Haven, CT

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 [1], 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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LabTV: Curious About the Microbiome

Keisha FindleyWhen people think about the human microbiome—the scientific term for all of the microbes that live in and on our bodies—the focus is often on bacteria. But Keisha Findley, the young researcher featured in today’s LabTV video, is fascinated by a different part of the microbiome: fungi.

While earning her Ph.D. at Duke University, Durham, N.C., Findley zeroed in on Cryptococcus neoformans, a common, single-celled fungus that can lead to life-threatening infections, especially in people with weakened immune systems. Now, as a postdoctoral fellow at NIH’s National Human Genome Research Institute, Bethesda, MD, she is part of an effort to survey all of the fungi, as well as bacteria, that live on healthy human skin. The goal is to get a baseline understanding of these microbial communities and then examine how they differ between healthy people and those with skin conditions such as acne, athlete’s foot, skin ulcers, psoriasis, or eczema.

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