Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. The prefix “ichthy” is taken from the Greek root for the word fish. Each year, more than 16,000 babies are born with some form of ichthyosis. A recent study has determined that approximately 300 babies are born each year with a moderate to severe form of ichthyosis. Ichthyosis affects people of all ages, races and gender. The disease usually presents at birth, or within the first year, and continues to affect the patient throughout their lifetime.
Ichthyosis (plural ichthyoses) is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders.
All types of ichthyosis have dry, thickened, scaly or flaky skin. In many types there is cracked skin, which is said to resemble the scales on a fish; the word ichthyosis comes from the Ancient Greek ιχθύς (ichthys), meaning “fish.”
The severity of symptoms can vary enormously, from the mildest, most common, type such as ichthyosis vulgaris which may be mistaken for normal dry skin up to life-threatening conditions such as harlequin type ichthyosis. Ichtyosis vulgaris accounts for more than 95% of cases.
Is there a cure for ichthyosis?
At present time there is no cure for ichthyosis, however dedicated researchers and physicians have and continue to develop effective ways to help manage the disorder. Parents are also playing an important role in sharing different treatments they are receiving with fellow parents of affected children and affected adults.
What are some of the problems associated with ichthyosis?
Besides the common scaling condition of the skin and depending on the severity, there may be associated psychological symptoms due to the abnormal appearance of the skin. Ichthyosis is disfiguring for most affected individuals. In addition to the numerous medical complications like dehydration, infections, chronic blistering, overheating, and rapid-calorie loss, patients with ichthyosis are subjected to psychological issues. Patients are often ostracized and concerns of isolation, low self-esteem, and depression are common due to the appearance of their visible, chronically shedding skin.
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Why is skin important to us?
The skin is the primary deflector for the human body. It encases and protects our body from the external environment. The barrier that makes up the skin has many components, which include a barrier to excessive loss of body fluids or uptake of noxious chemicals in the skin. The skin is made up of many layers, but it is the outermost layer that provides the most protection and it is this layer where most ichthyosis patients have a defect.
What causes ichthyosis?
Most forms of ichthyosis are very rare. The genetic mutation that causes the disorder is passed from parent to child. In some cases however, neither parent exhibits the disorder themselves, but they are carriers of the defective gene. When two carriers pass their mutated gene on to a new life, the child will inherit the disorder. In some very rare cases, the genetic mutation occurs spontaneously in the affected generation.