The name given to a rare inherited skin dysfunction is epidermolysis bullosa or EB. In EB, the skin is very fragile and prone to blistering. There was a TV documentary, a year or two past, about the ButterFly Girl who was a young girl suffering from an extreme form of epidermolysis bullosa.

All types of EB have the common symptoms of:

  • Skin blisters very easily
  • Blisters that form inside the mouth
  • Blistered skin on the palms of hand and soles of feet
  • Scarred skin that may have white spots or milia
  • Thickening of the skin and nails

There are three main types of epidermolysis bullosa:

  • epidermolysis bullosa simplex (EBS) the most common and least severe form of EB.
  • dystrophic epidermolysis bullosa (DEB) can also be mild but, has the capacity to become severe.
  • junctional epidermolysis bullosa (JEB) by far the rarest form of the disorder with the most severe symptoms.

Normally, EB will be diagnosed in babies or young children with positive cases being referred to a dermatologist.

However, it either of the parents is a known carrier of the gene, prenatal testing can diagnose EB in the unborn fetus.

Epidermolysis bullosa simplex
Source: Plastic Surgery Key

EB is caused by a faulty gene that will have been passed from one or both parents. This is true of all EB variants with the exception of epidermolysis bullosa acquisita which is an acquired autoimmune disease.

Furthermore, EB has no cure at the present time so treatment is intended to relieve symptoms and prevent complications.

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Epidermolysis bullosa simplex

EB simplex is the most common variant of the skin blistering condition. In mild forms of the condition, the fragile blistering skin is restricted to the palms of the hand and the soles of the feet.

EB simplex is different to the other variants of the disease. And, if you have EB simplex then you are very unlikely to develop any of the other forms of Epidermolysis bullosa.

What causes epidermolysis bullosa simplex?

The skin cells in the epidermis are prone to damage because of a weakness in one of the proteins that normally serve to strengthen the skin cell. The internal support structure of the cell is formed by keratins. In EB simplex, keratin type 5 or keratin type 14 malfunction causing the cell structure to become brittle.

Sometimes. Other proteins are involved. The proteins kelch-like family member 24, plectin or exophilin 5 can be responsible.

Inherited Skin Condition
Source: American Academy of Dermatology

The top layer of skin (the epidermis) is composed of layers of cells. Each cell has an internal support system formed from proteins (keratins), giving it strength and shape. In EB simplex, there is a weakness in one of these proteins (usually type 5 or type 14 keratin, but very occasionally other proteins called kelch-like family member 24, plectin or exophilin 5). This protein weakness causes affected skin cells to be more easily damaged. When the cells break, they separate from each other, fluid accumulates between them and a blister forms.

Types of EB simplex

Scientists behind the research into Epidermolysis bullosa simplex have identified four major types of the disease.

  1. Weber-Cockayne type is a localized form of the condition and can affect anyone at any age. With time the blistered skin can become thickened and hard (hyperkeratosis).
  2. Koebner type epidermolysis is relatively mild and is widespread.
  3. Dowling-Meara type is the most severe form of epidermolysis bullosa simplex and is characterized by extensive blistering anywhere on the body, including inside the mouth.
  4. Epidermolysis bullosa simplex with mottled pigmentation is identified by patches of darker skin on the body. These symptoms may disappear on reaching adulthood.

Bullous pemphigoid

Like Epidermolysis bullosa, Bullous pemphigoid is a rare skin condition characterized by itching, redness and blisters. But, that is where the likeness ends. Bullous pemphigoid generally affects people over the age of 60 and usually starts with sore, itchy red patches of skin.

This skin condition can affect large areas of the body, including the limbs. After a few weeks, small blisters may begin to show. These blisters can expand to fairly sizable proportions and may contain traces of blood.

However, blisters will not appear in all cases and when they do they can persist for many months or even years in some instances.

Bullous pemphigoid should clear up of its own accord. But, treatment can help contain the spread and help healing and recovery:

  • Steroid cream
  • Steroid tablets
  • Antibiotics

Important

You should never burst the blisters, doing so risks skin infection.

If you have awkward, troublesome blisters, your GP can drain them with a sterile needle.

Cause of Bullosa pemphigoid

Bullosa pemphigoid is an autoimmune condition and the root cause is not fully understood. Suspicion falls on events that gave caused skin damage like sunburn or certain medications.

Furthermore, Bullosa pemphigoid is not contagious, caused by an allergy or affected by diet or lifestyle.

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External Links

Epidermolysis bullosa NHS
What is epidermolysis bullosa simplex? British Skin Foundation
Epidermolysis bullosa simplex Medline
Epidermolysis bullosa simplex British Association of Dermatologists
Bullous pemphigoid NHS

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Epidermolysis bullosa simplex a rare inherited skin condition
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