Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect different organs of the body, particularly the skin, joints, blood, kidneys and central nervous system. "Chronic" means that it can last for a long time. "Autoimmune" means a disorder of the immune system in which, instead of protecting the body from bacteria and viruses, it attacks the patient's own tissue.
The history of the name "systemic lupus erythematosus" goes back to the early 20th century. "Systemic" means that it affects many organs of the body. "Lupus" is derived from the Latin word for "wolf" and refers to the characteristic butterfly-like rash on the face, which resembles the white markings on a wolf's face. "Erythematosus", from the Greek for "red", refers to the redness of the skin rash.
How common is it?
SLE is known throughout the world. The disease is more common in African-Americans and in people of Hispanic, Asian and Native American origin. In Europe, SLE has been diagnosed in about one in 2,500 people, and about 15% of all lupus patients are diagnosed before the age of 18. Onset of SLE before the age of five is rare, and onset before puberty is uncommon. When SLE occurs before the age of 18, doctors use various names such as paediatric SLE, juvenile SLE and childhood-onset SLE. Women of childbearing age (15–45) are most often affected, and in this age group the ratio of affected women to men is nine to one. The proportion of boys who develop the disease before puberty is higher, with one in every five children with SLE being a boy.
What are the causes of the disease?
SLE is a non-contagious autoimmune disease in which the immune system loses its ability to distinguish between a foreign substance and the person's own tissues and cells. The immune system produces, among other substances, autoantibodies that mistakenly perceive the person's normal cells as foreign, and attacks the cells. As a result, an autoimmune reaction occurs that causes inflammation in certain organs (joints, skin, kidneys, etc.). Inflammation means that the affected parts of the body become warm, red, swollen and sometimes tender. If signs of inflammation persist for a long time, as can happen in SLE, tissue damage may occur and normal function is impaired. Therefore, treatment in SLE aims to reduce inflammation.
Numerous hereditary risk factors, together with random environmental factors, are thought to be responsible for this abnormal immune response. It is known that SLE can be triggered by hormonal irregularities and stress during puberty, as well as by environmental factors such as sun exposure, viral infections and drugs (e.g. isoniazid, hydralazine, procainamide, anti-seizure drugs).
Is it hereditary?
SLE can run in families. Children can inherit from their parents some as yet unknown genetic factors that predispose them to developing SLE. Although this does not mean that they are predetermined to develop SLE, they are more likely to get the disease. If one of two identical twins is diagnosed with SLE, the risk of SLE in the other is no more than 50%. There is no genetic test or prenatal diagnosis available for SLE.
Can it be prevented?
SLE cannot be prevented, but an affected child should avoid certain situations that can trigger the onset of the disease or cause it to flare up (for example sun exposure without sunscreen, certain viral infections, stress, hormones and certain drugs).
Is it contagious?
SLE is not contagious. In other words, it does not pass from one person to another.
What are the main symptoms?
The disease can start gradually, with new symptoms appearing over weeks, months or even years. In children with SLE, non-specific complaints such as tiredness and weakness are the most common initial complaints. Most children with SLE have intermittent or persistent fever, weight loss and loss of appetite.
Over time, many children develop disease-specific complaints caused by the involvement of one or more organs. Involvement of the skin and mucosa is very common, and there may be various skin rashes, photosensitivity (sun exposure triggers the rash) and ulcers in the nose or mouth. The typical "butterfly" rash around the nose and cheeks is seen in a third to a half of affected children. Sometimes increased hair loss (alopecia) may be noticed. Redness, whitening and bluish discolouration of the hands may be seen on exposure to cold (Raynaud's phenomenon). Symptoms may include joint swelling and stiffness, muscle pain, anaemia, easy bruising, headache, seizures and chest pain. Most children with SLE have some degree of kidney involvement, and this involvement is the main factor determining the long-term outcome of the disease.
The most common signs of kidney involvement are high blood pressure, blood and protein in the urine, and swelling, particularly of the feet, legs and eyelids.
Subacute Cutaneous Lupus Erythematosus
SCLE was previously given various names such as symmetrical erythema centrifugum, disseminated DLE, superficial disseminated LE, autoimmune annular erythema, psoriasiform LE, pityriasiform LE, maculopapular photosensitive LE and lupus erythematosus gyratum repens. It was later accepted as a separate entity and the term SCLE came into use.
Its characteristic features include photosensitivity, disseminated, rapidly spreading cutaneous lesions that do not leave scars, and limited systemic organ involvement. Although women predominate, the exact ratio is not known. The age of onset is between 30 and 40. Clinically, the lesion begins as erythematous macules or papules on sun-exposed areas such as the shoulders, the V of the neck and the extensor surfaces of the arms, and turns into annular or psoriasiform/papulosquamous plaques.
Although patients with SCLE are photosensitive, the central face is usually spared. Clinically it presents in two variants. In the psoriasiform/papulosquamous variant, there are oval or round plaques with psoriasiform scale around them. In the annular variant, larger, flat plaques appear which heal in the centre and expand, leaving a red border and scale at the periphery. As SCLE involves a superficial inflammatory infiltrate, no induration is seen in the lesions. The lesion usually heals with hypo/hyperpigmentation but does not leave scars. SCLE cases with an atypical clinical appearance are also encountered. The best-known example of this is an erythema multiforme-like clinical picture in which vesiculobullous lesions are seen at the edge of the plaque.
Discoid Lupus Erythematosus
It is a disease that affects the skin, especially of the face. It is an autoimmune, chronic systemic disease of not fully known cause, presenting with numerous signs due to inflammation of many tissues and organs such as the skin, joints, kidneys, pericardium and pleura, with a variable course and characterised by various immune system abnormalities.
It is characterised by atrophy (the subsequent shrinkage of a body, organ, tissue or cell of normal size), scarring and pigment changes, redness of various sizes and peeling patches.
The causes of this disorder include genetic and environmental factors. It has an incidence of about 40 patients per 100,000 people. There is no treatment that will eliminate the disease completely in a short time. Today, the disease can be brought under control with treatment. There is no treatment that will eliminate the disease completely in a short time. Today, the disease can be brought under control with treatment.
Dermatomyositis
It is a chronic autoimmune (immune system-related) disease that is more common in adulthood than in childhood. In autoimmune diseases, the patient's immune system attacks the body's own cells and tissues.
In dermatomyositis, the muscles and skin are mainly affected by this attack, which the body starts against itself. In particular, with involvement of the muscles of the arms and legs, combing the hair, squatting and standing up become increasingly difficult. Skin involvement in dermatomyositis is also very characteristic; light purplish discolouration and swelling are seen especially on the upper eyelids, and red raised bumps over the finger joints on the backs of the hands.
Some other symptoms that may be observed in dermatomyositis include sensitivity to the sun, calcification of soft tissues, malaise, weakness, fever, difficulty swallowing and shortness of breath.
A microbial factor (virus, bacterium or parasite), excessive physical exercise, sunlight or certain drugs can trigger dermatomyositis.
Treatment involves the use of cortisone and drugs that suppress the immune system (immunosuppressants).
Heliotrope Rash
Heliotrope rash is a bilateral, light lilac or purplish rash, especially on the upper eyelids. It is often accompanied by periorbital oedema. Periungual changes appear under capillary microscopy (capillaroscopy) as capillary loop ectasia and disordered branching.
Gottron's Papules
Gottron's papules are purplish or erythematous papules or plaques that develop over bony prominences exposed to pressure, such as the extensor prominences of the finger joints, the elbows or the knees. Over time they take on an atrophic or scaly appearance. Gottron's sign is an erythematous rash located on the extensor surfaces of the elbows, between the fingers, in the flexures, and on the hips and knees.
Scleroderma
Scleroderma is a chronic autoimmune inflammatory disease with widespread fibrosis of the skin and internal organs. Scleroderma is characterised by vascular damage, immune activation, inflammation and fibrosis. However, debate continues today about the pathogenesis of scleroderma. In addition, it is one of the rheumatic diseases whose treatment is least successful. Although there have been important advances in the treatment of organ involvement in scleroderma, such as renal crisis, interstitial pulmonary fibrosis and pulmonary arterial hypertension, the treatment of skin involvement remains a problem.
Scleroderma (systemic sclerosis; SSc) is a chronic inflammatory disease characterised by widespread fibrosis of the skin and internal organs. The pathogenesis of the disease is not clearly known, but vasculopathy and immune activation play important roles. In addition, scleroderma is a rare and clinically heterogeneous disease.
Epidemiology
The incidence and prevalence of scleroderma can vary significantly in relation to ethnic and regional factors. The disease is most often seen between the ages of 30 and 50, and the female-to-male ratio is 8:1. In the United States, the incidence and prevalence of scleroderma in the adult population have been reported as 19.3 and 242 per million, respectively.
Morphoea
Localised morphoea: Morphoea is derived from the Greek word "morphe", meaning shape or form. In localised morphoea there are one or a few scleroderma lesions on the body. There are mostly oval, reddish patches on the trunk, back, face, arms and legs. The size (diameter) of these patches, located in particular areas of the body, can range from 1.5 cm to 30 cm. In the affected area the sweat glands disappear and hair growth is affected.
Generalised morphoea: Generalised morphoea is a more severe but rarer form of the disease than localised morphoea. Thick, tight skin forms large dark patches on the trunk, arms and legs, and these are so large that they can merge with one another. These widespread patches are like enlarged versions of localised morphoea patches, but are mostly ivory-coloured and sometimes have a purple line around them. These patients do not have life-threatening internal organ involvement, but the disease can cause severe scarring and loss of physical function. Generalised morphoea can be seen in areas of skin treated with radiotherapy. Both localised and generalised morphoea mostly resolve on their own, typically within 3–5 years, but often leave dark or pale patches behind, and in rare cases muscle damage occurs.
Linear scleroderma: Linear scleroderma, also called bilateral scleroderma, appears as quite distinct bands on the arms, legs, chest, stomach, back, buttocks or face. It is mostly seen as a childhood disease and occurs in children under 10. When it is on an arm or leg, it can cause the arms or legs to develop differently from each other. It can also extend below the skin and damage muscles and bones, disrupting muscle and bone structure, limiting the movement of affected joints and affecting normal growth.
When it is on the face, because of its appearance it is described by the French name "en coup de sabre", meaning "sabre blow". Linear scleroderma can cause disfigurement, but it is not life-threatening and rarely progresses to the systemic form.
Parry-Romberg Syndrome
Parry-Romberg syndrome is a rare disease characterised by progressive, one-sided facial atrophy. In medicine it is also known as Romberg syndrome.
Onset is usually between the ages of 5 and 15. It is more common in women than in men.
What Are the Signs and Symptoms of Romberg Syndrome?
The signs and symptoms of this disease can be listed as follows:
- Facial pain
- Migraine
- Hemianopia
- Cognitive impairment
- Hemiparesis
- Nausea
- Vomiting
- Enophthalmos
- One-sided atrophy of the salivary gland and tongue
- Hemifacial atrophy
- Changes and abnormalities in the person's hair colour
- An increase in hair pigmentation
- A gaunt facial appearance
- Wrinkled, thin skin
- Disturbances in the functioning of the nervous system are seen.
What Causes Parry-Romberg Syndrome?
According to some research, this disease is thought to arise following a disorder of autoimmune mechanisms. It is inherited in an autosomal dominant manner.
How Is Romberg Disease Diagnosed?
The patient's history should be taken and they should be examined in detail. Our most important tools for diagnosis and screening are magnetic resonance imaging and computed tomography.
Specific tests such as autoantibody testing also help with the diagnosis.
How Is Parry-Romberg Syndrome Treated?
The disease is treated in 2 main ways: pharmacological and surgical treatment. In pharmacological treatment, doctors generally prescribe immunosuppressive drugs such as corticosteroids, azathioprine, methotrexate and cyclophosphamide. In surgical treatment, these patients undergo facial correction operations using microsurgical techniques. Your doctor will decide when surgery should be performed.
What Are the Complications of Romberg Syndrome?
The complications of this syndrome can be listed as follows:
- Keratitis
- Iritis
- Optic nerve atrophy
- Facial paralysis
- Trigeminal neuralgia
- Neurological complications such as epilepsy
- Certain psychiatric complications
may be seen.
Idiopathic Atrophoderma of Pasini and Pierini
Idiopathic atrophoderma of Pasini and Pierini (IAPP) is a rare dermal atrophy disease of not fully known aetiology. It is characterised by asymptomatic, single or multiple, round or oval atrophic plaques with grey-brown or violaceous discolouration and typical sharp, steep edges. While some authors regard it as a separate disease with early onset, a long course and no lilac-coloured border, others consider it a subtype of morphoea.
Eosinophilic Fasciitis: Shulman Syndrome
Eosinophilic fasciitis (EF) is a disease in the group of scleroderma-like diseases that primarily affects the fascia and is characterised by inflammation and thickening. Although its aetiology is not fully known, some authors accept it as a form of localised scleroderma and others as a separate disease. The disease, which is more common in men, mostly begins as a result of excessive physical activity.
A diagnosis of eosinophilic fasciitis was made in a 13-year-old male patient who presented with complaints of symmetrical hardening and pain of the skin of the arms and legs beginning after excessive exercise, with the hardening gradually increasing. The case was presented because it is a rare entity.
What is Sjögren's syndrome?
Sjögren's syndrome is a disease belonging to the group called "autoimmune" diseases, in which the secretory glands, especially the tear and salivary glands, are affected. 80–90% of patients are women, and it usually appears in the 40s. It often begins with complaints that seem innocent, such as dry eyes or dry mouth, but which greatly reduce quality of life. The most important feature of Sjögren's syndrome is that, whichever symptom is predominant, just like other "autoimmune" diseases it has the potential to affect other organs or systems involving the whole body, such as the skin, nervous system, lungs or blood vessels. Because Sjögren's syndrome is not widely known, its diagnosis is usually made late. As a result, patients have to live for a long time with complaints that reduce their quality of life. Consequently, the syndrome, which mostly starts with dry mouth or dry eyes, can over time involve organs such as the lungs, kidneys and liver and turn into a disease affecting the whole body.
What are the symptoms?
The most important symptom of Sjögren's syndrome is dryness of the eyes and mouth. When saliva secretion in the mouth is insufficient, it leads to tooth decay, gum problems and the formation of fungal plaques. The disease causes vaginal dryness. As a result, problems such as painful intercourse, fungal infections and urinary tract infections arise. The resulting dry skin also makes it easier for infection to set in. Dryness of the nose and airways causes infections to descend to the lungs more quickly. Therefore, lung infections are more common in these patients. Dry eyes can lead to consequences ranging from infection to blindness. There may be weakness and joint pain. Cold sensitivity and colour changes such as whitening of the extremities in the cold may occur. Sometimes a type of lymph gland cancer called "lymphoma" can develop in patients.
Risk factors
Sjögren's syndrome occurs in one in every 100 people in the population, and in the geriatric age group over 65 its frequency rises to as much as five per cent. The disease, which mostly appears after the age of 40, is 9–10 times more common in women than in men. Because the use of medication increases from the 40s onwards due to various conditions from diabetes to depression and from hypertension to cholesterol, the symptoms of the disease can be confused with the side effects of medication. Dryness or joint pain developing in the geriatric age group may be interpreted as a result of ageing. All of these reasons lead to delays in diagnosis.
How is it treated?
Long-term treatment planning is needed in Sjögren's syndrome. A drug containing hydroxychloroquine, originally used to treat malaria, is effective in treatment by acting on the autoimmune mechanism by which the body tries to destroy its own cells. This drug helps muscle and joint pain. To relieve dry mouth, drugs that increase saliva secretion, toothpaste suitable for sensitive teeth, mouthwashes, lozenges and chewing gum are recommended. Dry eyes can be relieved with artificial tear drops or gels. If there is corneal damage, further procedures can be carried out by an ophthalmologist.
Recommendations for daily life
- Use household humidifiers in your bedroom, especially in the winter months.
- Moisten your nose frequently with saline sprays.
- Drink plenty of fluids.
- Use lozenges or chewing gum for dry mouth.
- Have a flu vaccination regularly every year.
- Take care of your skin, and especially after bathing apply a rich moisturiser to your whole body.
- Be sure to see your gynaecologist about vaginal dryness.
- See a doctor immediately if any swelling develops on your body, especially under the jaw and in front of the ears.
- If you are using a drug containing hydroxychloroquine, use high-factor sunscreens on sunny days to prevent skin pigmentation.
- While using hydroxychloroquine, have check-ups with your ophthalmologist every six months for visual field and dryness.
Still's Disease
Adult-onset Still's disease is a rare type of inflammatory rheumatism characteristically presenting with fever, skin rash and joint pain. It occurs with a frequency of 1 in 100,000. When the disease develops in childhood before the age of 16, it is called juvenile (childhood) Still's disease; if it develops after the age of 16, it is called adult-onset Still's disease. The female-to-male ratio is similar.
Symptoms of the Disease:
Prolonged fever: 38.9 °C or above for 1 week or more, often 3 weeks or longer (prolonged fever); it usually rises once during the day and then returns to normal; rarely it may rise twice.
Skin rash: pink to salmon-coloured patches of redness, again often appearing with the fever and disappearing when the fever falls. They may be raised; they are usually non-itchy, measles-like rashes. They develop on the trunk, arms or legs and usually fade when pressed.
Sore throat: may sometimes be the first sign of the disease and may be accompanied by enlarged, painful lymph glands in the neck.
Joint pain or joint swelling: occurs especially in the knees, wrists and ankles, shoulders and elbows. There is usually joint stiffness lasting more than 1 hour.
Widespread muscle pain accompanying the fever is also one of the symptoms of the disease.
Other: Abdominal pain and bloating, enlarged lymph glands, weight loss, pain on breathing (due to fluid collecting in the pleura) or persistent chest pain (due to fluid collecting in the pericardium) may also be seen.
Laboratory tests: there is no highly specific test that establishes the diagnosis of this disease.
Full blood count: an increase in the white cell count, especially neutrophils, and an increase in the platelet count are seen. CRP increases, but ESR (erythrocyte sedimentation rate) increases more. Although ferritin reflects iron stores, as an acute phase response it rises markedly in this disease. Fibrinogen increases, and the liver function tests AST and ALT may be raised. ANA and RF tests are negative. Serum protein electrophoresis usually shows signs of acute inflammation and a polyclonal increase in the gamma band.
The symptoms of adult-onset Still's disease and the blood tests performed initially do not in fact help establish the diagnosis, because similar findings can be seen in many infectious diseases, lymphoma, or certain rheumatic diseases such as vasculitis. Therefore, a thorough differential diagnosis must first be made with regard to these diseases. Examination by a rheumatologist and, if necessary, consultation with infectious diseases and haematology-oncology specialists are required to rule out possible foci of infection or lymphoma. Abdominal ultrasound and contrast-enhanced CT scans of the chest and abdomen are needed. Sometimes, on suspicion, pathological examination of an enlarged lymph gland or, if necessary, endoscopic examination of the gastrointestinal tract may be carried out.
Treatment of the disease: although aspirin and non-steroidal anti-inflammatory drugs are partly effective in the early stage, they are usually insufficient. In treatment, prednisolone is often started in the early stage according to the patient's clinical condition until the disease-controlling rheumatic drugs take effect, and it is tapered and stopped over 3–4 months. Among the disease-controlling rheumatic drugs, one of the most frequently used and most effective is low-dose methotrexate taken one day a week. If this is insufficient, azathioprine can be tried. In resistant cases, biological rheumatic drugs such as anakinra, tocilizumab and anti-TNF treatments may be preferred.
Course of the disease: in patients whose disease is brought fully under control with at least 2 years of maintenance treatment and who have no relapse, the drug dose can be reduced in a controlled manner and stopped. However, in some patients it can last 5–10 or even more years. The disease may relapse once again years after treatment has been stopped. Adult-onset Still's disease is not a fatal disease, or death due to this disease is very rare. However, the most feared complication during the course of the disease is "haemophagocytic syndrome", which can develop usually with sudden changes in medication or in untreated cases. This means that, with the release of large amounts of cytokines (substances produced during inflammation), the precursor cells of the blood cells (white cells, red cells, platelets) in the bone marrow are destroyed by certain cells there called phagocytes. It is a condition that requires hospital admission and urgent intensive drug treatment, but with early intervention it can be treated quite successfully.
Recommendations for Patients: Take your medication very regularly, because the course of this disease is greatly affected by irregular medication use, which can trigger not only a flare-up of the disease but also, though rarely, a more serious condition called haemophagocytic syndrome. Strengthen your muscles with exercise. Ask your doctor about the exercises you can do according to your age and other clinical features. Especially while you are using steroids (cortisone), take calcium and vitamin D regularly to prevent osteoporosis. If you do not eat fish 3 times a week, you can also take an omega-3 supplement to increase your muscle strength (your daily requirement is 500 mg/day).
Behçet's Disease
Behçet's disease (BD) was first described in 1937 by the Turkish dermatologist Prof. Dr. Hulusi Behçet as a disease presenting with a triad of symptoms: recurrent oral and genital aphthous ulcers and uveitis with hypopyon. In Behçet's disease, many organs and systems such as the skin, joints, lungs, blood vessels, central nervous system and gastrointestinal tract can be involved, and various clinical findings can arise. Behçet's disease follows a course of flare-ups and remissions, and its activity decreases over time. Its prognosis varies according to age and sex. For this reason, each patient should be evaluated individually.
Epidemiology
The geographical distribution of the disease around the world shows marked differences. While its prevalence is quite low in America and European countries, it is more common in countries along the historic Silk Road between the Mediterranean and East Asia. In Turkey, two separate field surveys found its prevalence to be 8/10,000 in Silivri/Fenerköy and 37/10,000 in Fatsa/Çamaş. Geographical variations have been observed in some symptoms of the disease. For example, while inflammatory ulcerative bowel disease is common in Japanese patients, it is seen in less than 1% in our country. Positivity of the "pathergy" reaction, which reflects a non-specific hyperreactivity response of the skin, is about 60% in Turkey and the Mediterranean countries, whereas it has been found less frequently in Western European countries. Another finding is that the association of the disease with the HLA-B51 antigen is significant in patients in the Middle and Far East, while a weak association has been observed in Western Europe. The mean age of onset of the disease is in the 20s and 30s; onset at older ages is rare. Alongside reports that the disease is more common in men, it has also been reported to be equally frequent in both sexes; however, the disease follows a more severe course in young men. Onset before puberty and after the age of 40 is uncommon.
Orchitis
It is an infection of the testes, more often viral and less often bacterial. Microorganisms reach the testes via the bloodstream.
Orchitis is inflammation of the testes. The most common cause of orchitis is probably mumps. However, it may also be due to infections of the prostate or epididymis. Orchitis can be among the side effects of many uncommon diseases.
Symptoms
- Pain in the scrotum;
- Swelling, usually on only one side of the scrotum;
- A feeling of heaviness in the scrotum.
The most common cause of viral orchitis is mumps. Less often, Coxsackie B virus can also cause orchitis. Bacterial orchitis is a rarely seen condition, usually occurring together with epididymitis, and their aetiologies are the same. Rarely, B. melitensis, M. tuberculosis, T. pallidum, rickettsiae, parasites and fungi can also cause orchitis.
In mumps orchitis, pain and swelling in the testes begin 4–6 days after the onset of parotitis, and 70% of cases are unilateral. The clinical picture is sometimes limited to pain and swelling only, while in some cases fever, nausea and vomiting may accompany it. Mild cases recover in one week and severe cases in 3–4 weeks.
The main findings in bacterial orchitis are fever, nausea, vomiting, and pain and swelling of the testes. The pain usually spreads to the groin; on physical examination there is acute hydrocele, and the scrotum is painful, oedematous and erythematous.
Diagnosis: In mumps orchitis, clinical and serological methods guide the diagnosis. In bacterial orchitis, a sample of pus should be taken for culture and a blood culture should be performed.
Diagnosis
The doctor will carefully examine the swelling in the scrotum, because the symptoms of orchitis can be confused with those of epididymitis and other conditions affecting the testes. The doctor will also carry out a urine test and other tests to look for other infections that may be associated with orchitis.
Orchitis can damage one or both testes, causing infertility and shrinkage of the organs.
Treatment
In mumps orchitis, non-steroidal anti-inflammatory drugs, bed rest and scrotal elevation are important. In bacterial orchitis, quinolones, cephalosporins or ampicillin-sulbactam may be recommended for treatment.
Drug Treatment
Orchitis occurring with bacterial infections is usually treated with antibiotics. However, when it occurs with viral infections (caused by viruses) such as mumps, traditional approaches such as resting and taking painkillers are followed.