User:Mr. Ibrahem/Epidermolytic ichthyosis

Epidermolytic ichthyosis (EI), formerly known as epidermolytic hyperkeratosis, is a severe form of dry scaly skin, that starts with redness, blisters, skin breakdown, and peeling in the newborn. Excessive cornification (thickening) of skin typically develops several months later. Other symptoms include itch, painful fissures, strong body odor, and absence of sweat. Severity and extent of skin involvement vary. Complications may include dehydration, infection including sepsis, joint problems, and electrolyte imbalance.

It is caused by a genetic mutation in the gene encoding the proteins keratin 1 or keratin 10, resulting in disruption of the structure of the outermost layer of the skin. The condition is mostly inherited in an autosomal dominant pattern. To a lesser extent, a recessive form exists. Diagnosis is by its appearance, skin biopsy, and genetic testing. The two main types are divided into one involving palms and soles and the other without.

Treatment includes regularly applying thick moisturisers. Other therapies include retinoids, applied to the skin as creams or taken by mouth, N-acetylcysteine, liarozole, and calcipotriol. Antibacterial soaps, chlorhexidine, and dilute sodium hypochlorite baths may reduce secondary bacterial colonization of skin. The severity of the condition generally lessens with age.

Epidermolytic ichthyosis is rare, affecting around 1 in 200,000 to 300,000 newborns. Males and females are affected with equally frequency. The condition was first described in 1902 by Brocq. It was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994. Those affected often socially isolated due to the condition.