Epidermolysis bullosa herpetiformis, Dowling–Meara

Epidermolysis Bullosa Herpetiformis, Dowling–Meara is a rare and severe form of Epidermolysis Bullosa Simplex (EBS), which is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Named after the dermatologists who first described it in 1954, Michael Dowling and George Meara, this condition is characterized by the herpetiform arrangement of blisters, resembling that of herpes simplex, though it is not caused by the herpes virus.

Symptoms and Diagnosis

The primary symptom of Epidermolysis Bullosa Herpetiformis, Dowling–Meara, is the spontaneous formation of painful blisters and erosions on the skin, often in response to minor injury or friction. These blisters can appear anywhere on the body but are most common on the hands, feet, knees, and elbows. In some cases, mucous membranes such as the mouth and eyes can also be affected. The blisters tend to appear in clusters and can be quite severe, leading to significant discomfort and potential complications, such as infection.

Diagnosis of this condition is typically based on the clinical presentation of symptoms, family history, and may be confirmed through genetic testing or a skin biopsy. The latter involves examining a small sample of affected skin under a microscope to look for characteristic abnormalities in the structure of the skin layers.

Genetics

Epidermolysis Bullosa Herpetiformis, Dowling–Meara, is caused by mutations in the KRT5 or KRT14 genes. These genes provide instructions for making keratin proteins that are essential for the strength and resilience of the skin. Mutations in these genes lead to the production of abnormal keratin, which makes the skin and mucous membranes fragile and prone to blistering.

This condition is inherited in an autosomal dominant pattern, which means a mutation in just one of the two copies of the gene a person has is sufficient to cause the disorder. There is a 50% chance of passing the mutated gene to offspring.

Treatment and Management

There is currently no cure for Epidermolysis Bullosa Herpetiformis, Dowling–Meara, and treatment focuses on managing symptoms and preventing complications. This may include wound care to promote healing and prevent infection, pain management, and nutritional support to promote overall health. In some cases, physical therapy may be recommended to maintain mobility and prevent contractures, which are permanent tightenings of the skin and joints due to scar tissue formation.

Preventive measures are also important and can include protective bandaging, avoiding activities that cause friction or trauma to the skin, and careful monitoring for signs of infection.

Prognosis

The prognosis for individuals with Epidermolysis Bullosa Herpetiformis, Dowling–Meara, varies. While the condition can be severe, especially in infancy and early childhood, some individuals may experience an improvement in symptoms with age. However, the risk of complications, including severe skin infections, malnutrition due to difficulty eating when the mouth is affected, and, in some cases, an increased risk of skin cancer, remains a concern.

See Also

• Epidermolysis Bullosa
• Genetic Disorders
• Skin Diseases
• Keratin

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