What is Epidermolysis bullosa?

Depending on the area of skin where blistering occurs, the disease can be divided into four main groups, and subsequently 32 subgroups.

• EB simplex: blisters appear between the skin layers. Generally, it has a good prognosis and heals without scarring.
• Junctional EB: blisters form inside the basement membrane, resulting in very diverse prognosis. In this case, the disease tends to need skin treatments as well as multidisciplinary treatments.
• Dystrophic EB: blisters are subepidermal. They are the most dangerous and with highest rate of morbidity because when they heal blisters cause scarring and retraction.
• Mixed EB.

Symptoms

The most common cutaneous symptoms are blisters in the areas of greatest friction such as on the hands and feet. They are skin lesions that bleed and may form scabs that are easily infected and that itch constantly. Scratching contributes to new lesions and secondary infections of already affected areas.

Once blisters have healed, millium cysts appear, atrophic or hypertrophic scars that produce webbed hands and feet, joint contractures, as well as aesthetic and functionally limiting deformities in the hands or that affect walking. All this leads to loss of independence.

In addition, the chronic wounds may produce highly aggressive skin carcinoma.

Aside from this, extracutaneous manifestations may result, such as involvement of the skin annexes, teeth and the gastrointestinal systems, the urinary tract and the respiratory epithelium.

Who is affected by epidermolysis bullosa?

The disease has a low prevalence rate and affects one in every 17,000 live births worldwide.

Diagnosis

The main method of diagnosis is mapping using immunofluorescence and electron microscopy techniques. In addition, genetic diagnosis is mandatory for these patients as the disease may have different evolutions and prognoses.

Typical treatment

Although it is being researched, at the moment there is no cure for this disease, but preventative and symptomatic treatment of skin lesions can be carried out, as well as treatment for systemic complications. When the disease appears it is vital to act quickly as patients’ life expectancy and quality of life depends on it.

Currently, new cellular and molecular therapies are being researched to combat the disease.

What are neuroblastoma?

It is not currently known what causes them, but they are understood to often be hereditary. Approximately two thirds of neuroblastoma occur in the adrenal glands (found above the kidneys) or near the spinal cord in the nerve cells that control the heart beat, blood pressure and digestion. Neuroblastoma may also appear in the chest, neck or pelvis. During diagnosis they are often found to have already spread; there may be metastasis in the lymph nodes, liver, bones, bone marrow or other organs.

Neuroblastoma may be divided into two types of tumour:

• Ganglioneuroma, which does not spread but may grow.
• Ganglioneuroblastoma, which may grow and spread.

The first symptoms of neuroblastoma may be imprecise and include fatigue, weight loss or weight gain.

Abdominal tumours may cause abdominal pain or difficulty urinating or with bowel movements.

Tumours pressing on the spinal cord may cause weakness in the arms and legs and the patient may find it difficult to move their arms or to walk.

If the tumour has spread to the bones, it may cause pain and, if it has spread around the eyes, it may cause bulging eyes and dark circles. There may also be inflammation or a lump around the affected tissue. Other less common symptoms are weight loss and fever.

Who is affected by neuroblastoma?

Malignant neoplasms in children and teenagers are rare, but they are one of the most important causes of morbidity and mortality in these age groups. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Neuroblastoma makes up 10% of cancers in children.

Diagnosis

If the doctor believes the child may have a neuroblastoma, he/she will carry out a very precise examination and request several diagnostic tests to determine the size and location of the tumour. The most common tests are:

• blood and urine test
• ultrasound scans
• magnetic resonance imaging
• bone marrow aspiration, generally from a bone in the back
• tumour biopsy to confirm diagnosis

Typical treatment

Treatment is administered taking into account the state of the disease, the child’s age and the location of the tumour.

Some low-risk neuroblastoma may disappear without treatment, and others can be cured with surgical treatment alone. However, many tumours in the “high-risk” category will already have spread tumour cells to other parts of the body, and in these cases it is necessary to use a combination of chemotherapy, surgery, radiotherapy, bone marrow transplant and immunotherapy.

Prevention

There are currently no measures to prevent this kind of tumour.