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Epidermolytic ichthyosis (EI) is a rare skin disorder that affects 1 in 100,000 people. The condition affects males and females equally, and it’s usually apparent at birth or shortly thereafter.
The skin appears red and scaly, and may have serious blistering. Within months, the outer layer of skin usually begins to thicken (hyperkeratosis), while the blistering may gradually decrease.
If your doctor has diagnosed your child with EI, it’s wise to enlist the care of a highly skilled dermatologist. At Hines Dermatology, Dr. Yvonne Hines brings extensive experience in diagnosing and managing common and rare skin disorders.
While there’s no cure for EI, proper treatment can lower the risk of complications and reduce hyperkeratosis.
Infants born with EI have skin that is very fragile and has red patches. Changes in certain genes (KRT1 or KRT10), either inherited or sporadic, prevent the skin from functioning normally. In EI, the two outermost layers of skin are defective.
This leads to issues in barrier function characterized by inflammation, scaling, and hyperkeratosis. The severity of EI varies and depends on the percentage of affected cells. Children with a mutation in some but not all of their cells tend to present with a less severe form.
Visibly red areas of skin and blistering are the most common signs when an infant is born with EI. Scales tend to develop not long afterward and often form in parallel rows. As the largest organ of the body, the skin has numerous functions, most importantly to provide a barrier. The skin also retains moisture, regulates vitamin D production, and transmits sensation.
Because the skin’s ability to function is compromised in children and adults with EI, several complications may arise, including infection, dehydration, and heat intolerance.
Making a diagnosis can be challenging without special training in treating the skin. You should always seek evaluation from a dermatologist if your child has skin abnormalities.
Dr. Hines provides a comprehensive evaluation. Along with a physical exam and going over your medical history, she may order diagnostic laboratory tests, such as genetic testing.
Easing symptoms and reducing complications are the main goals for treating EI. Dr. Hines may use a combination of:
Children and adults with IE need special skin care. Partnering with a dermatologist is the best path to that care.
To learn more about how we treat this rare skin condition and to schedule an appointment with Dr. Hines, contact our Attleboro, Massachusetts, office at 508-222-1976 or book online to schedule an appointment.
Another option is to send a message to Dr. Hines and the team here on our website.