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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).
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.
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.
There are currently no measures to prevent this kind of tumour.
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.
Stroke is a sudden disruption of blood flow to the brain caused by a blocked or ruptured blood vessel. The lack of oxygen can lead to irreversible brain damage, making early recognition and immediate medical care essential.
Strokes are a medical condition caused by an alteration in blood circulation to the brain. This alteration is due to an artery becoming blocked (ischemic stroke) or the rupture of a blood vessel (haemorrhagic stroke), preventing blood from reaching the brain and therefore temporarily or permanently altering brain functions. When blood flow is impeded, the affected part of the brain does not get the nutrients and oxygen it needs. As a result, brain cells can die, causing severe after-effects.
For this reason, if a person is suspected of having a stroke, the Emergency Medical Service should be notified immediately by calling 112. Acting quickly is essential in order to minimise or eliminate possible after-effects.
Strokes can be grouped into two broad categories depending on the reasons behind them:
When blood flow is temporarily interrupted (for between one and 24 hours), this is known as a Transient Ischemic Attack (TIA); however, if the duration is longer or the brain scanner detects necrosis (neuronal death), it is considered an ischemic stroke. TIA is a predictor of vascular disease and, in the case of stroke, is a warning that the person is at risk. In fact, 40% of people who suffer a stroke have previously suffered a TIA.
In the event of the sudden onset of one or more of the following symptoms, action should be taken quickly by calling 112:
Anyone can suffer a stroke, regardless of age and physical condition, although they are more common in the elderly. About 75% of cases occur in people over 65, although they increasingly affect young adults due to their lifestyle habits (between 15 and 20% are under 45). Strokes can also affect children: in Catalonia alone, 900 children live with a disability as a result of a stroke.
This disease can also be known by other names, such as apoplexy, cerebral vascular accident, seizure and thrombosis. In Catalonia, more than 13,000 people are admitted each year for a stroke and, unfortunately, they are not always reached in time to save the patient.
To determine the cause of a stroke it is necessary to perform a brain scan (CT). The scan can be completed by reviewing the condition of the cerebral and cardiac vessels, taking into account risk factors and chronic diseases presented by the patient. However, it is not always possible to discover the origin.
Knowing the cause of a stroke allows us to establish the most appropriate treatment to prevent it from happening again. Depending on the aetiology (cause), it can be classified as:
If a stroke is suspected, a neuroimaging test (a CT or MRI) should be performed as soon as possible, which will tell us about:
Specialists may request other tests such as a chest x-ray (performed upon admission as a first assessment), a doppler or transcranial duplex (to see whether there is a possible intracranial occlusion or stenosis, and where it is located), blood tests (to find out the status of risk factors, immunological and coagulation study, serologies, hormones, renal function, etc.) or a cardiological study (if a cardioembolic stroke is suspected).
After diagnosis, specialists may ask to repeat the tests to detect any changes by comparing the images, or request other tests.
Stroke treatment should be applied immediately, as rapid action can lessen the effects. However, a rehabilitation period is usually needed to eliminate or reduce possible after-effects.
After suffering a stroke, the risk of having another is higher, so it is necessary to take medication to reduce the risk, always following medical guidelines. The first year after suffering a stroke is when there is the highest risk of relapse.
Suffering a second stroke may have a fatal outcome. In survivors, it leads to an increase in the degree of disability and risk of dementia, as well as a higher rate of institutionalisation.
The impact may be different for each patient. Symptoms will be more or less severe depending on the area and volume of the brain affected, as well as the general state of health prior to the event.
In the case of a transient ischemic attack (TIA), which does not usually leave after-effects, or ischemic strokes, if the patient responds well to treatment, recovery is virtually immediate. At other times, the recovery is longer term and takes weeks or months, leaving some sort of after-effects.
There may also be a worsening of the patient due to neurological causes or complications such as fever, infections or others. In more severe cases, it can lead to death.
Once the patient is discharged, the primary care team takes responsibility for the patient, and will monitor risk factors and other chronic diseases. In complex cases, patients will need to visit specialists, such as neurologists.
The return home after hospital discharge will vary depending on the severity of the incident and the patient's family situation. Similarly, reintegration into daily life will depend on the after-effects experienced by each patient.
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