The genetic skin disorder epidermolytic hyperkeratosis (EH), also called bullous congenital ichthyosiform erythroderma, causes excessive skin thickening and blisters. Here are some of the key aspects of epidermolytic hyperkeratosis, including its causes, symptoms, diagnosis, treatment, and prevention.
Causes
Symptoms of epidermolytic hyperkeratosis are caused by mutations in genes encoding keratin proteins. Keratinocytes are disrupted by these mutations, causing the epidermis to build up excessive amounts of keratin. Typically, EH is inherited as autosomal dominant, which means that one copy of the defective gene must be inherited from one or both parents in order to develop the condition.
Symptoms
There are a number of symptoms associated with epidermolytic hyperkeratosis, including thickened, scaly skin and blisters on the palms and soles. These blisters can rupture, leaving behind raw, tender areas of skin that can become infected. Hyperkeratotic plaques (thickened, darkened areas of skin) and palmoplantar keratoderma (thickened skin on the palms and soles) are also commonly seen.
Diagnosis
The diagnosis of epidermolytic hyperkeratosis typically involves a combination of clinical evaluation, family history assessment, and skin biopsy. A dermatologist may examine the skin for signs of EH, such as thickened, scaly patches and blisters. An examination of the skin's structure under a microscope may reveal abnormalities in the keratin proteins by performing a skin biopsy. Mutations in genes associated with EH may also be detected through genetic testing.
Treatment
Epidermolytic hyperkeratosis treatment aims to manage symptoms, prevent complications, and improve the quality of life of affected individuals. Common treatment options include:
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Using emollients and moisturizers regularly can soften and hydrate the skin, reducing dryness and scaling.
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The use of topical retinoids, such as tretinoin or adapalene, may be prescribed for the purpose of promoting skin cell turnover and reducing the thickness of hyperkeratotic plaques.
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A bacterial infection caused by skin breakdown or blistering can be treated with antibiotic ointments or oral antibiotics.
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Blisters and skin inflammation may be treated with over-the-counter pain relievers, such as acetaminophen or ibuprofen.
Prevention
Since epidermolytic hyperkeratosis is a genetic disorder, there are no specific preventive measures to avoid its onset. However, genetic counseling may be beneficial for individuals with a family history of EH to understand the risk of passing the condition to future generations. Additionally, practicing gentle skin care and avoiding activities that may cause friction or trauma to the skin can help minimize symptoms and reduce the frequency of blistering episodes.
As a result of epidermolytic hyperkeratosis, the skin thickens excessively and blisters form. The ability to effectively manage this condition and improve the quality of life of affected individuals depends on understanding its causes, symptoms, diagnosis, treatment, and preventative strategies.
