Epidermolysis bullosa (EB)

Epidermolysis bullosa is a group of inherited skin conditions; researchers have classified 27 variants of the condition however there are 3 main types of EB:

·       Epidermolysis bullosa simplex is a dominantly inherited condition therefore a child has a 1 in 2 chance of inheriting it if one of the parents is affected. EBS can also be a result of a ‘new mutation’ within cell division. This is the most common t type of EB, accounting for 70% of cases. There are three types of EBS:

1.     Weber Cockayne EBS- which is the most common type of EBS and the blistering symptoms are localised on hands and feet and often do not become obvious until the child begins to walk. Other friction such as riding a bike can cause blisters to develop on the inner thighs or the buttocks. Generally blisters are made worse by excessive sweating.

2.     Kobner EBS- Symptoms are similar to EBS however within hot conditions they usually become more affected. There may be mild blistering of the mucus membranes such as inside the nose, mouth or throat. Scarring and milia may occur on the skin, but this is uncommon.

3.     Dowling Meara EBS – very severe case, where in some circumstances children develop over 200 blisters a day. The widespread blistering can make the skin vulnerable to infection and affect an infant’s normal feeding pattern which means they may not develop at expected rate.  Blisters may also develop inside the mouth and throat making eating and speaking  painful.

 

·       Dystrophic epidermolysis bullosa can exist in two forms, recessive dystrophic EB (RDEB) therefore unless both defective genes, the patient is just a carrier of the disorder and doesn’t show any symptoms. However on the other hand Dystrophic EB (DDEB) causes fragile skin and blistering inherited by a dominant gene.

·       Junctional Empidermolysis bullosa (JEB) although only 5% of cases are infected, its considered the most severe form. Blistering occurs at the junction between the epidermis and dermis within the basement membrane. Hair loss is a common symptom due to blistering of the scalp. Further problems arise because tooth enamel is not properly formed which means teeth may be discoloured, fragile, and prone to tooth decay. Regular review by a dermatologist is needed, as severe issues can arise such as cancer.

The defected genes affect protein production in the upmost layer of the skin, there is a tendency for the skin and mucous membranes to blister and break down in response to minimal friction and trauma because the layers of skin do not ‘stick’ to each other.

The treatment available is to relive symptoms but no cure the condition, by avoiding skin damage, improve quality of life, and improve quality of life and preventing complications occurring such as infected blisters or malnutrition.

References:

http://www.gosh.nhs.uk/medical-conditions/search-for-medical-conditions/epidermolysis-bullosa/epidermolysis-bullosa-information/

http://www.bbc.co.uk/news/health-24902658

http://www.nhs.uk/conditions/Epidermolysis-bullosa/pages/introduction.aspx