How does Epidermolytic ichthyosis affect the body?
Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time.
What is Epidermolytic ichthyosis?
Epidermolytic ichthyosis (EI) specifically refers to a hereditary skin disorder that is characterized by varying degrees of blistering and subsequent reactive scaling of the skin. The underlying histopathology shows mid-epidermal splitting and hyperkeratosis, together referred to as epidermolytic hyperkeratosis (EHK).
Is lamellar ichthyosis itchy?
Symptoms include abnormally red, dry, and rough skin with large or fine white scales. The skin tends to feel itchy as well. Skin on the palms of the hands and soles of the feet can be very thick.
Is there a cure for Epidermolytic hyperkeratosis?
There is no cure for epidermolytic ichthyosis (EI). The primary goal of therapy is to reduce hyperkeratosis. This can be achieved with topical keratolytics such as lactic acid, alpha-hydroxy acid, or urea. Topical emollients such as those containing glycerin are also often useful.
Does hyperkeratosis go away?
This and other inherited forms of hyperkeratosis can’t be cured. Medications that include a form of vitamin A can sometimes improve symptoms. There is also research being done to use gene therapy to help treat this condition.
What are symptoms of lamellar ichthyosis?
Symptoms include abnormally red, dry, and rough skin with large or fine white scales. The skin tends to feel itchy as well. Skin on the palms of the hands and soles of the feet can be very thick. (For more information, choose “Ichthyosis Congenita” as your search term in the Rare Disease Database.)
What causes epidermolytic hyperkeratosis?
Epidermolytic hyperkeratosis is caused by a defect in the suprabasal epidermis causing aggregation of keratins K1 and K10. The blisters represent lysis of the epidermal granular layer, and secondary infection with Staphylococcus aureus becomes a major difficulty in the neonatal period and during infancy.
What is lamellar ichthyosis?
Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly.
What are the possible complications of lamellar ichthyosis in infants?
Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems.
What is ichthyosiform erythroderma?
Ichthyosis congenita (collodion baby; congenital ichthyosiform erythroderma; xeroderma; desquamation of the newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red, dry, and rough skin with large coarse and fine white scales. Itchiness (pruritus) usually also develops.
What are the symptoms of ichthyosis in humans?
People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems.