Last updated January 1, 2013
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:: More Info and Pictures

F.I.R.S.T.'s disease information pages are a good source of information about the different types of ichthyosis.

 

The Dermatology Atlas online has quite a few pictures--use the menu on the left-hand side of the page to find the disease type in which you are interested.

 

Do a search on www.emedicine.com.  They've got some good information pages on ichthyosis, and they include some good pictures.  For example, here's their page on lamellar ichthyosis.

 

See our Library for suggestions about other research tools.

 

 

Show N Tell

So you have questions about ichthyosis, like:

                     Read on to find out!

What is Ichthyosis?

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 diseaseí). 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 that had it. As you might guess, this type of ichthyosis is fairly common. However, most forms of ichthyosis are much more severe (also very rare). The scaling can be very heavyóyou definitely notice right away, just passing someone on the street, that something is wrong with their skin. However, itís much more than a cosmetic problem for the person who has ichthyosisóthe scaling can be very painful, as it can restrict the bodyís 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 donít want you to pity them, and they donít 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 (see the list below), 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.

 

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     The Ichthyoses and Related Skin Types:

Acquired Ichthyosis

Ichthyosis Vulgaris
Autosomal Dominant Lamellar Ichthyosis Keratosis Follicularis Spinulosa Decalvans
Chanarin-Dorfman Syndrome (neutral lipid storage disease) KID Syndrome (keratitis-ichthyosis-deafness)
CHILD syndrome (unilateral hemidydsplasia) Lamellar Ichthyosis (recessive)
Chonodrodysplasia Punctata Syndrome       (Conradi-HŁnermann syndrome) Multiple Sulfatase Deficiency
Congenital Ichtyosiform Erythroderma (CIE, nonbullous) Nethertonís Syndrom (i. linearis circumflexa)
Darierís Disease (keratosis follicularis) Palmoplantar Kertoderma Types (various)
Epidermal Nevus Syndrome Peeling Skin Syndrome
Epidermolytic Hyperkeratosis (EHK; also called bullous CIE) Pityriasis Rubra Pilaris
Erythrokeratodermias (E. progressiva symmetrica, E. variabilis & E. heimalis) Recessive X-linked Ichthyosis (steroid sulfatase deficiency)
Giroux-Barbeau Syndrome Refsumís Disease (phytanic acid storage type)
Harlequin Ichthyosis (harlequin fetus) Rudís Syndrome
Hailey-Hailey Disease (familial pemphigus) SjŲgren-Larsson Syndrome
Ichthyosis Hystrix (Curth-Maklin type) Tayís Sydrome (trichothiodystropy; IBIDS syndrome)
 

What Does It Look Like?

Check out our photo gallery.


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How Does This Happen?

Your skin is alive; it is your bodyís 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 donít even notice that this is going on. When your skin sheds, itís practically invisible (unless youíre looking at it under a microscope!) because itís shedding in pieces that are so small. With ichthyosis, the skin doesnít follow the life cycle that itís 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 donít shed as quickly as they should, and again produce a build-up.

 

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Why Did This Happen To You?

 

Ichthyosis is caused by a genetic defect (either by spontaneous mutation of a gene or through family inheritance). The symptoms may or may not be apparent at birth, but the genetic defect was present at conception. You cannot "catch" ichthyosis. You cannot do anything wrong to develop ichthyosis. Itís not your parentsí fault either. You were just born with it.

 

Thatís all most people need or want to know. Genetics is a complex subject, including the genetics of ichthyosis. For more information about the genetics of ichthyosis, check out the Library.  Also, there are some rare, acquired (non-genetic) forms of ichthyosis, but these are also not contagious.  These are typically associated with a variety of other conditions, including cancer and AIDS.

 

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Incidence Rates

Itís no wonder that with so many different kinds of recognized ichthyosis, sometimes itís hard to accurately diagnose certain individuals. Because many people with milder forms of ichthyosis go undiagnosed (they may figure they just have dry skin and donít seek special treatment from a dermatologist), and others may be misdiagnosed, exact incidence rates are difficult to calculate. However, the table below shows commonly accepted estimates of incidence rates:

 

Source: Foundation for Ichthyosis and Related Skin Types

Incidence Rate Table

 

This certainly qualifies ichthyosis as a rare disease. A rare or "orphan" disease affects fewer than 200,000 people in the United States.  However, we're hardly alone in being affected by a rare disease.  There are more than 5,000 rare disorders that, taken together, affect approximately 20 million  Americans. One in every 12 individuals in this country has received a diagnosis of a rare disease.

 

Compare this with the incidence rates of things you may be more familiar with:

 

  • Twins occur about once in every 89 births; triplets occur about once in every 7,900; quadruplets once in every 703,000.

  • Down syndrome: 1 in 800.

  • 2 out of every 1,000 children suffer from autism symptoms.

  • The appendix causes trouble in about 4 of every 1,000 children under 14 and in one of 15 adults. Each year more than 250,000 Americans undergo an appendectomy.

  • Babies that are born with spina bifida or other neural tube defects: 4.6 per 10,000.

  • Half of the population of children in the world are allergic to something.

  • More than 1/3 of adults, 100 million Americans, are visually impaired without the aid of glasses or contact lenses. Near-sightedness (myopia) is suffered by 70 million Americans.

FIRST reported on a new study published in the September 2012 issue of Archives of Dermatology by Dr. Leonard Milstone of Yale Univerity.  More information is on their website

 

We're not alone in having skin problems either; some notable celebrities have skin problems too!

 

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What Is 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.  However, overheating poses the biggest problem.  Hot weather, vigorous physical exercise, anything that would normally cause you to sweat and be hot, poses an issue 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 tough 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 you what's wrong with you, and secondly to make the skin feel good, so that your skin doesn't make it painful to move, impair your hearing or effect your eyesight.  For more details on what people do to care for their skin, see Helpful Hints.

 

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You Can Help!

Even without committing very much time or money.  Check out How You Can Help for more information.

 

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