About Ichthyosis

Lamellar ichthyosis is an autosomal recessive disorder that is apparent at birth and is present throughout life. The newborn is born encased in a collodion membrane that sheds within 10-14 days. The shedding of the membrane reveals generalized scaling with variable redness of the skin. The scaling may be fine or platelike, resembling fish skin. Although the disorder is not life threatening, it is quite disfiguring and causes considerable psychological stress to affected patients. (cite)

The ichthyoses are a family of skin diseases; the characteristic that they each share is that they cause the skin to build up and scale (some medical journals and dictionaries still refer to ichthyosis as “fish skin disease”). The degree of scaling can vary; some people who have ichthyosis just have dry skin. They can pretty easily care for their skin with drugstore lotions, and unless they told you they had trouble with dry skin, you probably would never know they had it. As you might guess, this type of ichthyosis is fairly common. However, most forms of Ichthyosis, such as Lamellar Ichthyosis are much more severe (also very rare). The scaling can be very heavy — and it is noticeably visible to someone on the street — that something is wrong with their skin. However, it’s much more than a cosmetic problem for the person who has the disease — the scaling can be very painful, as it can restrict the body’s range of movement, pull so tightly around the face that the eyelids turn outward, cause deep cracks or fissures at the joints, adversely affect hearing, and more. People who have ichthyosis will probably try their best to hide these problems from you. They don’t want you to pity them, and they don’t want their ichthyosis to stop them from doing everything in life that everyone else can do. However, living with ichthyosis can be very tough.

Dermatologists have recognized more than 25 types of ichthyosis however, there are just a handful of main types: lamellar ichthyosis, congenital ichthyosiform erythroderma (CIE), epidermolytic hyperkeratosis (EH or EHK), x-linked ichthyosis and ichthyosis vulgaris. With the exception of ichthyosis vulgaris, ichthyosis is a very rare disease. (cite)

What does ichthyosis look like?

The following pictures are posted on www.ichthyosis.com 

See the pictures

2 day old baby

3 months old baby

3 months and 2 days old

3 months and 5 days old

4 months and 2 weeks old

What causes ichthyosis?

Lamellar Ichthyosis is caused by a genetic defect (either by spontaneous mutation or inheritance) of the TGM1 gene. The symptoms may or may not be apparent at birth, but the genetic defect was present at conception. Ichthyosis can not be “caught” nor can it passed on through contact. You were just born with it.

What does it do to the skin?

Your skin is alive; it is your body’s largest organ! With “normal” skin, the skin is constantly renewing itself, dying, and shedding. (The average skin cell has a lifespan of 14 days.) Most of the time you probably don’t even notice that this is going on. When your skin sheds, it’s practically invisible (unless you’re looking at it under a microscope!) because it’s shedding in pieces that are so small. With ichthyosis, the skin doesn’t follow the life cycle that it’s supposed to, and builds up. In CIE and EH, the cells reproduce too fast, faster than they can shed, and build up. In lamellar ichthyosis, x-linked ichthyosis and ichthyosis vulgaris, the skin cells reproduce at a normal rate, but they don’t shed as quickly as they should, and again produce a build-up. (cite)

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What are the incidence rates?

Source: Foundation For Ichthyosis and Related Skin Types

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What's it like to have ichthyosis?

One of the things your skin normally does for you is regulate your internal temperature.  People with ichthyosis are often more sensitive to temperature changes, both hot and cold.  Overheating poses the biggest problem. Hot weather, vigorous physical exercise, anything that would normally cause you to sweat and be hot, poses a problem for people with ichthyosis (many of whom can't perspire, or only sweat a small bit in certain places – not enough to naturally cool themselves down). So people with ichthyosis go to great lengths to stay active and avoid heat exhaustion (or worse!).

There currently is no cure for ichthyosis; only treatments. Caring for ichthyosis is very labor-intensive. It means spending lots of hours every week bathing, scrubbing the skin in an effort to shed some of the scales, putting on creams to help moisturize and exfoliate; it's a never-ending battle where you can never quite seem to get the upper hand.  Caring for ichthyosis is as much about looking good as feeling good. For people with severe forms of ichthyosis, the goal (which is difficult to achieve), is two-fold: make the skin look “normal” enough that people on the street don't stare, call you names, or always ask what's wrong with you, and secondly, to make the skin soft so that it isn't painful to move, won't impair your hearing or affect your eyesight.

In addition to the numerous medical complications like dehydration, infections, limited movement, impaired eyesight or hearing, chronic blistering, and overheating, patients with ichthyosis suffer psychological issues as well. Patients are often ostracized due to their visibly chronic shedding skin, which can lead to isolation, low self-esteem, and depression. For a family, a child diagnosed with ichthyosis can be a devastating event, as they see for the first time pictures of children affected with severe forms of this disease. Words can not express the hardships that kids with this disease must endure. (cite)

If you would like more information about what it is like to have Ichthyosis, I encourage you read to read two very inspirational stories that we found comforting when our.child was born: One from a very brave child with Ichthyosis (Matt’s Message) and one from his mother (Matt’s Mom), who explains what it like to have a child with Ichthyosis.