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Epidermolysis bullosa (EB) encompasses a range of genetic diseases characterised by excessive fragility of the skin and mucous membranes when subjected to minimal trauma. The disease appears at birth or during the first few years of life, and lasts a lifetime. Prognosis is variable, but tends to be serious. Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications. There is currently no effective treatment available.
Depending on the area of skin where blistering occurs, the disease can be divided into four main groups, and subsequently 32 subgroups.
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.
The disease has a low prevalence rate and affects one in every 17,000 live births worldwide.
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.
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.
Human papillomavirus (HPV) is generally spread through sexual intercourse and mainly infects the skin (penis, vulva, anus) or mucous membranes (vagina, cervix and rectum) of the genitals in both men and women. Likewise, it can also appear in the mouth and the pharynx and tonsils.
This is a frequently transmitted disease and in most cases it does not result in any pathology. It can, however, release a benign disease in the form of warts, or less commonly, different types of cancer. In women, HPV can cause cervical cancer.
HPV is spread via direct skin to skin contact during sex, and not through fluids. In around 90% of cases it disappears spontaneously, but it can be transmitted whilst the virus is present.
HPV is classified in terms of whether or not there is a risk of cancer developing:
It should be said that it is possible to be infected with more than one type of HPV. In addition, persistent infection can result in developing cancer of the cervix, vulva, penis, anus or oropharynx.
Specifically, the virus initiates dysplastic changes in the epithelial cells which continue to evolve until they produce an invasive cancer. This is a progressive process and the time from infection until developing the disease can be up to twenty years.
Genital warts or small protuberances or groups of different sizes and shapes may appear in the area of the genitals.
In the case of cancer, there are no symptoms until it is very advanced. In the case of cervical cancer, symptoms show up as:
In Catalonia, cancer of the womb occurs in 7.2 out of every 100,000 women per year (2003-2007). This represents 2.8% of all female cancers. Between the ages of 35-64 this figure rises to 16.1 cases for every 100,000 women. Furthermore, the risk of developing this disease for women who live to 75 is one in 106.
Anal cancer has an annual incidence rate of 1.8 cases for every 100,000 people, but in the case of men engaging in same-sex relations and infected with HIV, this rises to 70 or 128 cases for every 100,000.
When there is evidence of warts, diagnosis is usually clinical or by biopsy. Cancer is detected by cytology tests, which allow anomalous changes in the cells to be seen before they develop. If the test comes back anomalous it can be complemented by a colposcopy that allows magnified examination of the cervix and samples to be taken.
HPV detection is the main component of a preventative strategy to detect the virus before it reaches the point of disease.
There is no specific antiviral treatment for HPV.
In the case of warts, in most cases they can be eliminated through surgery, ointments or other treatments.
If cancer does develop, treatment will depend on the stage at which it is diagnosed. For example, if it is detected early in the cervix this can involve removing the damaged tissue, whilst in more advanced stages it may require a hysterectomy, radiotherapy or chemotherapy.
The use of condoms is essential to prevent HPV. There is also highly effective vaccine used as a way to prevent cervical cancer. Regular cervical smear tests (Papanicolau test) are also carried out as a form of screening. This strategy, however, is changing due to the techniques used to detect the virus which, together with the smear test, are enabling the different stages of the disease to be monitored (acquisition, persistence, progression to precancerous lesions and invasion).
This disease consists of a hole in the partition that separates the right and left chambers of the heart, and a malformation of the mitral valve.
Patients with an atrioventricular septal defect have a hole in the wall between the left and right sides of the heart and a malformation of the mitral valve, which is the valve that regulates blood flow from the left side of the heart.
In the case of a partial atrioventricular septal defect, the upper part (atrial) or lower part (ventricular) part of the partition may be affected. In the case of a complete atrioventricular septal defect, the hole affects both the atrial and the ventricular chambers of the partition.
This heart condition may or may not present symptoms, depending on the size of the interatrial hole and the insufficiency of the mitral valve.
Where there are symptoms, the most common are those related to heart failure:
This is carried out through an echocardiogram to identify the presence of a defect and the degree of mitral insufficiency.
This heart disorder is corrected through surgery, during which a patch is used to close the atrial septal defect and the mitral valve is repaired by closing the hole. The ideal age to repair a partial AV defect is from 1 to 4 years old.
The vast majority of patients with a repaired defect of this type have a similar life expectancy and quality of life to the general population. If it is not corrected, patients may develop pulmonary hypertension, a disease with drastically reduced survival rates from around thirty or forty years old.
Acetabular, or hip, dysplasia in teenagers and young adults is a malformation of the hip. It is characterised by loss of the concavity of the socket (shallow and flat) and the acetabular ceiling becoming vertical, being badly positioned and covering the head of the femur in a way that creates instability in the hip.
The onset of pain is usually gradual, but it can sometimes be sudden if there is an increase in physical or sporting activity, weight gain or pregnancy.
Despite routine clinical examination and ultrasound on new-borns for detection and early treatment of developmental hip dysplasia, this disorder is still the most common cause of acetabular dysplasia in teenagers and young adults, and the reason behind over 50% of degenerative hip osteoarthritis requiring surgery to fit a full or partial prosthesis, or other techniques to preserve the hip.
Most cases are caused by developmental hip dysplasia, but in others, abnormal development and growth of the acetabulum is due to a deformity on the head of the femur. Excessive pressure on the joint means the cartilage deteriorates more quickly than normal.
The incidence rate in adults is very variable. The incidence of developmental hip dysplasia is 1 or 2% in new-borns and 60% of hip osteoarthritis originates in acetabular dysplasia.
Physical examination may be normal or cause pain in the groin when the hip is flexed with internal rotation and hip adduction. This “impingement test” shows an interjoint anomaly.
An AP standing x-ray and false profile and axial view of the hip are useful to diagnose and assess the severity of the condition. The high-resolution MRI in our centre allows us to see the structures and quality of the cartilage in the joint. If there is still any doubt, an arthroscopy can be performed.
Early diagnosis of developmental hip dysplasia through routine physical examination (Barlow and Ortolani tests) during the prenatal period and an ultrasound of the hip enable early treatment and prevention of residual acetabular dysplasia.
Neuroblastoma is one of the most common cancers in children under five, and makes up half of all cancers in babies. It is very unusual for this type of cancer to occur in older children or teenagers. Neuroblastoma starts in embryo cells made up of ganglia from the sympathetic nervous system and adrenal medulla, and therefore may appear in different locations and with many different clinical presentations.
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:
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.
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.
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:
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.
There are currently no measures to prevent this kind of tumour.
Complete atrioventricular septal defect is a congenital heart condition caused by a hole in the wall separating the left and right chambers of the heart.
This is a congenital heart defect caused by a hole in the wall separating the left and right chambers of the heart. This communication affects both the atria (the upper chambers) and the ventricles (lower chambers).
The cause of the defect is the formation of endocardial cushions, which are responsible for the creation and joining of the atrioventricular valves with the cardiac septum, the wall that separates the two chambers.
This heart defect is also characterised by having just one atrioventricular valve in place of two; the tricuspid and mitral valves.
Children with this heart defect show classic symptoms of heart insufficiency or failure. This includes frequent respiratory infections, difficulty feeding and gaining weight.
This makes up 4 % of all heart disease and around half of the heart defects that affect children with Down's syndrome.
Diagnosis is via 2D echocardiogram.
New-born babies tend to undergo surgery for this heart defect when they are six months old. The procedure consist of closing the interventricular or interatrial hole using a patch. The atrioventricular valve is also reconstructed to create a valve on the right side and another on the left.
In children under six months with severe symptoms, a prior palliative procedure called pulmonary cerclage is carried out. This procedure is carried out by narrowing the pulmonary artery using a band to decrease excessive pulmonary flow.
Osteosarcoma, or osteogenic sarcoma, is a cancer of the bone cells. It is a malignant tumour that can spread to almost any organ or tissue in the body. It usually starts in the ends of the bones of the legs or arms, but can be found in other bones.
It is most commonly found in the distal femur (above the knee), the proximal tibia (below the knee), the proximal humerus (the arm below the shoulder).
It can spread to almost any organ or tissue in the body, but tends to go to the lungs first. It often occurs in children and young people between 10 and 20 years old who are undergrowing a rapid growth spurt. It tends to appear in an area where there has been trauma, but the relationship between this injury and the risk of developing osteosarcoma is currently unknown.
The most common symptoms are pain in the area of the tumour and swelling or a lump.
Movement may cause pain to increase.
If the tumour is in the hip or leg the child may limp.
Malignant neoplasms in children and adolescents are rare, but they are one of the most important causes of mortality in these age groups. Osteosarcoma represents 4% of cancers diagnosed in children throughout Spain. Every year in Spain there are around 40 new cases in children under 14 years of age.
There are different tools to diagnose osteosarcoma:
These tests will help to determine the size and location of the tumour and whether it has spread to another part of the body. This information determines which phase it is in and is necessary to decide the best treatment to follow.
Osteosarcoma is treated using two kinds of therapy: surgery (to save or amputate the limb) and chemotherapy.
Chemotherapy is usually given a few weeks before and after surgery. The type of surgery depends on the size and location of the tumour, and on the age of the child.
Diphtheria is an acute infectious disease caused by the Corynebacterium diphtheriae bacteria and which only affects humans. It may show up as a condition of the upper respiratory tract (tonsils, pharynx and nasal mucosa). The bacteria produces an exotoxin that is responsible for the clinical symptoms of the disease. In adults, it can be fatal in 5-10% of cases, and in children this rises to 20%.
The characteristic symptom of respiratory diphtheria is a greyish white membrane (pseudomembrane) covering the tonsils and pharynx. The membrane tends to be difficult to remove and in doing so the area bleeds easily.
The most common symptoms are:
Thanks to vaccination, there have been no cases diagnosed in Spain for over thirty years. In 2015, however, there was one case in a child who had not been vaccinated.
Diphtheria is transmitted through respiration or close physical contact with an infected person or a healthy person carrying the bacteria but who has never shown symptoms.
The incubation period is two to seven days and it can be spread from seven days before symptoms appear up to two or three weeks afterwards.
Diagnosis is confirmed via microbial culture of clinical samples (swabs from the nasal mucosa, pharynx or pseudomembranes).
Diphtheria antitoxin medication and an antibiotic such as penicillin G procaine must be given as soon as possible (in the first 48 hours after showing symptoms, without waiting for the laboratory diagnosis).
Vaccination is the main measure to prevent diphtheria and is effective in 95% of cases. It must be periodically boosted as the effects of the vaccination do not last for ever.
Epidemiological monitoring and prophylaxis are essential to control the bacteria and to avoid secondary cases.
Meningitis is an inflammation of the meninges, which are the membranes covering the brain and spinal cord. This is generally caused by an infection that is bacterial, viral or fungal. Meningitis may also have various non-infectious origins such as trauma and tumours.
There are two types of meningitis:
Meningitis may also include nausea and vomiting, sensitivity to bright light, drowsiness, falling into a coma or convulsions.
The first symptoms of bacterial and viral meningitis are similar. However, bacterial meningitis is generally severe and can cause serious complications such as brain damage or learning difficulties.
In bacterial meningitis, the bacteria in the blood can give rise to another serious disease,septicaemia, which is the body’s generalized reaction to infection and which may have various consequences such as:
In the most serious cases it can be fatal. In this case, the appearance of small spots on the skin is cause for alarm.
Bacterial meningitis can be contracted by any age group but the elderly and young children are most at risk. In the last twenty years its epidemiology has changed significantly with the introduction of new vaccines linked to child vaccination programmes.
Whilst meningococcus is the main cause of bacterial meningitis around the world, in Spain meningococcal disease is not endemic, with an annual rate of fewer than 5 cases for every 100,000 people. Meningococcal meningitis may lead to death in 3-15 % of cases.
Many of the viruses that cause the disease are present worldwide and others are specific to particular regions.
If meningitis is suspected, blood and cerebrospinal fluid (the liquid around the spinal cord and brain) samples will be analysed. Cerebrospinal fluid is obtained via lumbar puncture. Analysis will help confirm the disease and will identify the microorganism causing it.
Most cases of infectious or viral meningitis improve without treatment in 7-10 days. However, it is very important that people with symptoms of meningitis receive immediate medical care to make a correct diagnosis of the disease, to determine the type of meningitis and to receive the right treatment.
In the case of bacterial meningitis, antibiotic treatment must be administered intravenously as soon as possible. Anti-inflammatories may also be used to treat any complications that may arise.
Critical burns are injuries caused by thermal, chemical, or mechanical energy that may affect not only the skin but also internal organ function. When extensive, they trigger a systemic inflammatory response that can become life-threatening.
Burns occur when the body comes into contact with a source of energy that raises the temperature of the tissue. This produces tissue damage in which proteins coagulate and cause the cells to die. Even a localised injury may affect the organs and internal systems.
In most cases, burns occur because our body comes into contact with a source of thermal energy, in other words, its temperature is higher than our body’s and heat transfer takes place. This is the case with flames, boiling water, hot objects and radiation from the sun. Other types of burns are caused by mechanical energy produced by friction such as dragging.
When burns are extensive and cover 15% of an adult’s body or 10% of a child or a person over 50 years old, they are called “minor burns”. When they occur, a high number of pro-inflammatory molecules are released from the burn and reach the rest of the body through circulation of the blood. During the acute stage, the permeability of the blood vessel membranes and of the body's cells is increased, which results in changes to the distribution of liquid in the body and the depression of cellular function.
To tackle the burn, a few days later the body initiates a generalised inflammatory response via a notable increase in catabolism processes in order to obtain energy resources. It also initiates a hyperdynamic response that transfers these resources to the injured areas. If the burn does not heal quickly, the inflammatory response may consume the body's resources, exhaust the patient, cause organ failure and, ultimately, death.
Once healed, however, there may be lasting functional and aesthetic consequences due to scarring or retraction. This is the case with hypertrophic and keloid scars; thickened areas of scar tissue that limit the mobility of joints, retraction of the eyelids, microstomia, and others.
Burns are graded depending on their severity and they also look different:
Burns are a common, serious and debilitating traumatic injury that mainly results from accidents in the workplace, the home or traffic accidents. The Spanish Society of Family and Community Medicine estimates that three out of every thousand people a year suffer burns requiring medical attention. Primary care centres (CAPs) deal with most cases, but 15-20% will require admission to hospital.
Diagnosis is clinical and treatment must be carried out by highly specialised professionals as this is not a common pathology.
Depending on the degree of the burn, treatment may be:
Most burns are avoidable and therefore the main tools for prevention are education and legislation in society.
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