EPIDERMOLYSIS BULLOSA

TYPES

There are three types of Epidermolysis Bullosa based on the symptoms and complications that they and these are as follows:

• Simple Epidermolysis Bullosa or Epidermolysis Bullosa Simplex manifests with very mild symptoms and is associated with minimal complications. This is the most common type of EB
• Epidermolysis Bullosa Dystrophic type- Symptoms are sometimes very mild to severe
• Epidermolysis Bullosa Junctional type- Occurs this type of EBhas the most severe symptomatology and complication.

SYMPTOMS

Epidermolysis bullosa symptoms may present as any of the following:

• Formation of an elevated, fluid-filled induration on the skin that comes in contact with each,  during physical activity. Frequently affected areas are the palmar and plantar areas, both inner thighs.
• Presence of excessive amount of callus on the areas of the soles of the feet and thicker than healthy fingernails among adults
• The appearance of whitish substance on the mucous membranes (nasal passages, oral,  the throat area)
• Generalized blister formation- occurs among patients with severe EB and prevents the infant from taking in milk formula because this is very painful. Fluid accumulation sometimes overlays the sole or renders the patient unable to walk or crawl.
• Presence of minute, multiple wounds on the lower extremities and the scalp area resulting in thickened scalp texture and eventually loss of hair,  the patient to go bald or have some bare patches.
• Loss of fingernails- the nails sometimes spontaneously fall off of its,  a weeping tissue layer.
• Presence of end-organ complications such as anemia, severe malnutrition, delayed speech, low body water content resulting in dehydration.

DIAGNOSIS

Dermatologists often can tell Epidermolysis bullosa by merely looking at the appearance of the skin. There,  ancillary laboratory examinations that can help the clinician confirm the diagnosis are as follows:

• Skin biopsy- A thin portion of the skin is removed and subjected to fluorescent dyes and examined under high-resolution microscopy.
• Testing for the presence of the genes that carry EB. Some parents opt to have an amniocentesis(removal of the amniotic fluid while the baby is still in the womb) to identify if the baby is at risk of having such a condition.

TREATMENT

Since EB is known to be a hereditary type of disease, several studies have shown the effectiveness of stem cell transplantation from an HLA compatible donor to reverse the symptomatology and prevent the disease’s complication.