Epidermolytic ichthyosis (EI), also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma: 482  or bullous congenital ichthyosiform erythroderma Brocq, is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people. The condition is caused by a genetic mutation, so it cannot be completely cured without some form of gene therapy. While some research has been done into possible gene therapy treatments, the work hasnt yet been successfully developed to the stage where it can be routinely given to patients. The condition involves the clumping of keratin filaments. : 562

Presentation
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor. Epidermolytic hyperkeratosis can be categorized into two types :-

People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body.
See also
Hyperkeratosis
Ichthyosis
Ichthyosis bullosa of Siemens
Isotretinoin (Accutane)
List of cutaneous conditions
List of cutaneous conditions caused by mutations in keratins
List of verrucous carcinoma subtypes
Nonbullous ichthyosiform erythroderma

References


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