Ichthyosis prematurity syndrome

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Ichthyosis Prematurity Syndrome (pronounced ik-thee-OH-sis pre-ma-TUR-ity SIN-drome) is a rare genetic disorder that primarily affects the skin.

Etymology

The term "Ichthyosis" is derived from the Greek word "ichthys," which means fish. This is in reference to the scaly skin often associated with the condition. "Prematurity" refers to the fact that the condition is often diagnosed at or shortly after birth. "Syndrome" is a term used in medicine to describe a collection of symptoms and physical signs that occur together.

Definition

Ichthyosis Prematurity Syndrome (IPS) is a condition that causes thickened skin at birth, often leading to premature delivery. The skin abnormalities associated with this condition improve significantly during the infant's first few months of life, but the skin remains dry and rough throughout the individual's life.

Symptoms

The primary symptom of IPS is the presence of thick, plate-like scales covering the skin. Other symptoms may include respiratory distress, eye abnormalities, and an increased risk of infection due to the skin's inability to serve as an effective barrier.

Causes

IPS is caused by mutations in the FATP4 gene. This gene provides instructions for making a protein that is involved in the transport of fatty acids, which are important for maintaining the health and function of the skin.

Treatment

There is currently no cure for IPS, but treatments can help manage the symptoms. These may include the use of moisturizers and creams to help hydrate the skin, and antibiotics to treat any infections.

Related Terms

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