What Is Lamellar Ichthyosis?

posted: 04/27/16
by: Mara Betsch
Kenny Takes Bobbi Shopping

So far on "Two in a Million," you met Owen and Giovanni, who have Schwartz Jampel Syndrome, Tiffany and Yajaira, who have Jarcho-Levin Syndrome, Austin and Elena, who have Goldenhar Syndrome, and, now, Bobbi, 49, and Kenny, 45, who have Lamellar Ichthyosis.

Learn all about this rare condition and how these two positive people have dealt with it their entire lives.

What is Lamellar Ichthyosis?

Lamellar Ichthyosis is a genetic skin disorder. Most people produce skin cells that falls off in small particles, but with Lamellar Ichthyosis, a patient creates the same number of skin cells, but the skin builds up in layers, giving the appearance of scales. When skin does fall off, it often does so in large chunks.

What causes it?

It's a genetic disorder caused by mutations that affect several different genes. Both parents must pass the same defective gene on to their child, and even still, there's only a one in four chance of transmitting the disease. If a child receives one normal gene and one for the disease, they will be a carrier.

What are the symptoms?

Lamellar Ichthyosis is usually diagnosed at birth, because babies with the condition are often covered with a clear membrane, and their skin underneath is red, tight, and dry. As the patient gets older, he or she will have the appearance of scaly skin (it's usually worst on hands and feet) and will often have trouble growing hair, due to the thickness of hair on their scalps. Another side effect of Lamellar Ichthyosis is tightness of skin around the eyes and eyelids, which can make it difficult for patients to close their eyes.

Because their skin is more likely to crack, those with Lamellar Ichthyosis are often at risk for a variety of infections. There's also an increased sensitivity to heat (Bobbi claims she can only be in the sun for 10-20 minutes) and decreased ability to sweat.

How rare is it?

It occurs in about anywhere from one in 100,000 - 200,000 people, and it doesn't seem to affect one race or gender more than another.

Is there a treatment?

Unfortunately, there is no cure. To manage the condition, long baths followed by moisturizers containing ceramides, cholesterol, petrolatum, or lanolin, and mild keratolytic (acid-based) treatments help. There are oral synthetic retinoids, which both Bobbi and Kenny take, but those are reserved for more severe cases since they have serious side effects.

If you'd like to learn more about Lamellar Ichthyosis or other rare diseases, the Genetic and Rare Diseases Information Center can help. You can visit their website, call their toll-free number 888-205-2311, or contact them through this form.

Kenny and Bobbi Begin A Life-Changing Friendship

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Bobbi, 49, and Kenny, 45, have Lamellar Ichthyosis. They travel across the USA to meet for the first time, and begin a life-changing friendship.