Bullous Congenital Ichthyosiform Erythroderma
Epidermolytic ichthyosis (EI) (formerly epidermolytic hyperkeratosis (EHK)) is considered one of the five main types of ichthyosis (the others being lamellar ichthyosis, congenital ichthyosiform erythroderma, ichthyosis vulgaris, and X-linked ichthyosis). EI is rare, occurring in approximately 1 in 300,000 Americans.
EI is characterized by thick, blistering, warty hardening of the skin over most of the body, particularly in the skin creases over the joints. Scales tend to form in parallel rows of spines or ridges. The skin may be fragile and may blister easily following injury. Babies are usually born with red, blistering, and denuded skin with visible areas of skin thickening. Over time there is a gradual decrease in blistering, but an increase in the severity of the scaling and thickening. A generalized erythroderma (redness of the skin) is present in some individuals. Skin infections with commonly found bacteria (Staphylococcus and Streptococcus) can be a chronic problem. The teeth, hair and nails are normal, but scalp involvement can be severe, resulting in hair loss. Heat intolerance is common.
Possibly fifty percent of known cases of EI can be traced to an affected parent, while the other fifty percent are thought to be caused by a spontaneous mutation, which can then be passed on to their children. The gene for EI is dominant over the gene for normal skin so there are no invisible carriers for EI. Anyone who carries the EI gene will show the disease. If a partner of the person with EI does not also have the disease, each of their children will have a fifty percent chance (the same for each pregnancy) of inheriting the disease. (For more information on the genetics of EI, refer to FIRST’s publication, Ichthyosis: The Genetics of Its’ Inheritance.)
Treating EI is a challenge. The medications that are used to help remove the excess thickened skin layers (topical keratolytics or oral retinoids) often remove too much scale, leaving a very fragile epidermis (underlying living cell layers) exposed. Skin infections are also a particular problem.
Although no currently available treatments are ideal, a combination of these strategies may help:
- Application of a barrier repair formula containing ceramides or cholesterol.
- Application of a barrier repair formula containing petrolatum or lanolin.
- Topical or systemic anti-bacterial agents.
Keratolytics (lotions containing alpha-hydroxy acids) and oral retinoids.
Both of these should be used with caution.
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