Fragile X Syndrome

Fragile X Syndrome
‘Fragile X syndrome’ is also known as Fragile X. It is the most common genetic form of mental retardation. It occurs due to changes in a gene which is passed on from one generation to the other. It can affect people belonging to all income levels and ethnic groups.

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Symptoms of Fragile X syndrome

The symptoms of Fragile X syndrome mainly occur due to the inability of the mutated or changed gene to create sufficient protein that is required and essential for the cells, particularly brain cells, for its development and proper functioning. The severe consequences of the Fragile X syndrome depend upon the quantity and usage of this protein in fractions. Some of the signs and symptoms of Fragile X syndrome include:

• Mental retardation


• Difficulties in speech and language


• Delay in speech and language


• Delay in crawling, walking


• Impulsive behavior


• Unusual habits like hand clapping or hand biting


• Tendency to avoid eye contact


• Large forehead or ears with prominent jaw


• Soft skin


• Large body size


• Large testicles, after the start of puberty


• Flat feet


• Large head circumference in babies


• Subtle differences in facial features


• Flexible joints and low muscle tone


• Excess shyness may be the only disorder noticed in females

In some affected individuals, a majority of these symptoms may be present from the time the child is born, whereas other patients may develop it post puberty.

Fragile X syndrome affected individuals who experience mild anomalies in the FMR1 gene may not suffer from mental problems; however they can have other health issues. Females with some major genetic errors can have early menopause or experience problems in becoming pregnant. Both men and women patients can have anomalies such as quivers and limited or bad communication.

Causes

The cause for Fragile X syndrome is mutation in one gene, the Fragile X Mental Retardation 1 gene, or the FMR1 gene. It is present on the X chromosome. This results in mental retardation.

Mental retardation is further linked with more than five hundred different conditions. Some of them include Down syndrome, and phenylketonuria.

The Fragile X Mental Retardation 1 gene

Fragile X syndrome is caused due to mutation in a gene known as ‘FMR1’. Repetition of a tiny portion of the gene code on a fragile area of the X chromosome creates this problem. The level of repetition determines the severity of the syndrome.

• The FMR1 gene produces a protein required for proper growth of the brain. Due to the presence of defects in the gene, the body is unable to make the necessary amount of protein and sometimes can produce nothing.


• Males and females, both suffer from this syndrome. However, males only have a single X chromosome and hence are more likely to suffer from severe cases of Fragile X syndrome. A person can suffer from Fragile X syndrome even though the parents are not affected by the genetic abnormalities or mutations.

Diagnosis

Fragile X syndrome is diagnosed through study of the number of repetition of CGG and the position of methylation; this is done through southern blot analysis and restriction endonuclease digestion method.

 Fragile X syndrome Treatment

There is no known cure for Fragile X syndrome. Expert guidance and teaching helps the Fragile X syndrome patient to do as many tasks as possible, on their own. There are many medications in the market that claim to treat the condition. However, there is no sufficient evidence to support this claim.

Currently, there is no specific cure for Fragile X syndrome. Still there is expectation that further studies of the causes of this syndrome will help to form new therapies. Presently, some treatments such as behavioral therapy, expert education, treatments of physical abnormalities are helpful in treating the effects of this syndrome.

Genetic counselling is recommended for those people who have relatives with history of Fragile X syndrome, so that they can study and understand the possibility of conceiving children with Fragile X syndrome, as well as prepare themselves for the consequences.

Different types of treatments such as the correct education, various forms of behavioral and physical therapies, and medicines can help to reduce and lessen the signs and symptoms of the syndrome. Persons with severe mental retardation can also study and become independent by adopting self-help skills.

Quick action and fast response at the earliest is a necessary element for the optimum development of a child with Fragile X syndrome over a long period of time. The earlier a child starts to receive assistance, the more are the chances of the patient being able to grasp and study things, efficiently. When a child is young, its brain is still in the developmental stages. Therefore, early action can make the child understand and grasp more things. This results in full development to the maximum, giving the child a good beginning. If your child has been diagnosed with Fragile X syndrome, then parents do not need to worry unnecessarily. You can start the treatments right away for best results.

Fragile X Syndrome Pictures

 

Low Ferritin Levels

Low Ferritin Levels
Ferritin is the main protein that stores iron and regulates its controlled release. Almost every living organism produces ferritin and among humans ferritin deals with iron overloads and iron deficiency. Basically, ferritin is a hollow sphere that stores iron as ferric hydroxide phosphate complex.

Low ferritin levels simply mean iron deficiency and high ferritin levels refer to the iron overload. Either of this condition is dangerous as they lead to serious diseases.

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Ferritin blood test

A ferritin blood test is done to check the levels of ferritin, protein that binds to iron in the blood. Ferritin is present in liver, skeletal muscles, spleen, bone marrow and blood. The levels of ferritin present in the blood indicate the amount of iron is stored in the body. Ferritin blood test is carries out to fund out the cause of anemia, check if inflammation is present, check if too much iron is present and to check whether or not the treatment to increase or reduce the levels of iron is working.

The ferritin blood test is conducted with the venous blood as extracted in a normal blood test. Mostly this test is conducted in conjunction with other tests so as to evaluate the iron stored in the body.

If high levels of ferritin are reported, it indicates iron storage disorder like chronic disease or hemochromatosis. Lower levels of ferritin may indicate deficiency of iron which leads to disease called anemia.

The normal ferritin levels are 18 to 270 ng/mL of blood among males and it is 18 to 160 ng/mL range among females. People having ferritin levels below 18 to 50 nanogram are said to have low ferritin levels or anemic. Children of age group ½ to 15 years have normal ferritin levels of 7 to 140 ng/mL and for infants it is 50 to 200 ng/mL.

What does a low ferritin level indicate?

Low levels of ferritin are the clear indication of iron deficiency. If the body is deficit of iron then it fails to produce sufficient amount of hemoglobin. Hemoglobin is a component in RBCs which is responsible to carry oxygen. This result into a condition called anemia.

Low ferritin levels may also lead to other conditions such as Vitamin C deficiency, celiac disease and hypothyroidism. Teenagers and adolescents who have ferritin levels low but above the range of anemic condition are most likely to develop restless legs syndrome.

Symptoms of low ferritin levels

Mild anemia is not a serious condition and does not produce any symptoms. Howeversevere cases of anemia produce following symptoms:

• Breathlessness or shortness of breath


• Dizziness or laziness


• Pale skin


• Heartbeat increases


• Fatigue

Causes of anemia/low ferritin levels

In order to find out the underlying cause of low ferritin levels or anemia, your physician may ask questions related to living style and medical history. The physician is most likely to ask about the following:

• Diet that you take to check whether it contains iron-rich foods


• If you are a women, your doctor may ask if you have menorrhagia i.e. if you have been experiencing heavy periods


• Any medicine that you might have been taking regularly that causes gastrointestinal bleeding


• About your family history so as to ensure that you do not have a family history of blood disorders or gastrointestinal bleeding


• If you donate blood regularly or in any case where you had excessive blood loss


• About any other medical condition that you are currently having or had in the recent past

Physical examination of low ferritin levels or anemia

Physical examination will usually be conducted only if your cause of iron deficiency is not known. Physical examination may include examining the abdomen to find out if there’s gastrointestinal bleeding which is the most common cause of low ferritin levels. The physician may also check for the symptoms of heart failure or condition if heart is not pumping the blood efficiently.

Two important physical examinations used to detect low ferritin levels are rectal examination and pelvic examination. Rectal examination is done only if patient is found to have rectal bleeding. Perhaps this is the most common method of knowing the cause of bleeding in gastrointestinal tract. In this exam, the physician will insert a lubricated and gloved finger into the rectum to check for any abnormalities. Generally the person does not feel pain but has a feeling of his bowels moving around.

If the physician detects heavy menstrual bleeding i.e. menorrhagia among women, then he may take up pelvic examination as it may be a cause of low ferritin level. This examination is done to check external sex organs namely vulva and labia for bleeding of any infection. Alternatively the physician may also take the examination internally by inserting his lubricated and gloved finger inside the vagina to check if ovaries and uterus is enlarged.

Indian Fire Rash

Indian Fire Rash
Indian fire rash is a contagious skin infection and is most common among children and infants.  They appear as reddish sores on face, specifically in the areas around mouth and nose. Indian fire rash is caused mainly when bacteria enter into the body through scratches or insect stings but they can also appear on normal and healthy skin. This condition is popularly known as impetigo.

Typically there are no complications associated with Indian fine rash and generally go away on its own within 3 weeks’ time. This skin disease can turn serious so doctor generally advice treatment based on topical and oral antibiotics. Mostly, the affected person/children can go in public places/school once they are no longer contagious. This time duration is just few days after the antibiotic treatment is commenced.

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Symptoms

Some of the signs and symptoms of Indian fire rash include:

• Red sores which usually rupture very soon releasing fluid for few days and later turn into yellowish-brown layer or crust.


• Itching


• Blisters which are filled with fluid and are generally painless


• In severe cases, there may be painful, pus-filled sores which turn into ulcers

Types of Indian fire rash

Impetigo contagiosa: Also known as nonbullous impetigo, it is the most common type of Indian fire rash. The onset of this infection is a reddish sore on face, mostly near nose and mouth. These sore burst rapidly and release pus or fluids which later forms crust. They cause itchiness but do not cause pain. This crust is removed leaving behind reddish spot which heals up quickly without having left scars. This condition is generally not accompanied by fever but lymph nodes in the affected area get swollen up. Since this condition is contagious, if the person slightly scratches or touches the sores then the infection may migrate to other body parts.

Ecthyma: Ecthyma is a severe form of Indian fire rash and may reach even up to the second layer of skin. The person may also develop fluid or pus filled blisters on feet and legs which may turn into ulcers. These sores get punctured on their own with time and develop thick, gray-yellow, solid scan. When the sores heal up, scars are formed and lymph nodes may also swell in this disease.

Bullous impetigo: This form of Indian fire rash mainly occurs in children below 2 years of age. In this condition, fluid-filled blisters which are also painless may occur on torso, legs and arms. The skin surrounding the affected area becomes red and itchiness may occur. The blisters can be big or small and rupture in few days to form yellowish scan is formed which lasts for considerable amount of time.

Causes of Indian fire rash

Some of the causes of Indian fire rash are as follows:

• Indian fire rash are caused majorly due to two types of bacteria namely: Staphylococcus aureus and Streptococcus pyogenes.  Both these types of bacteria reside on the skin and are harmless until they enter inside the body through an injury or a cut thereby causing infection


• Among adults, this skin infection is caused mainly due to trauma to skin and due to other skin conditions such as dermatitis. Indian fire rash among children is mainly due to insect bite, cut on skin or due to scratch on the skin. It is to be noticed that Indian fire rash among children can be caused even if there’s no major injury.


• Since it is contagious in nature, therefore anyone who comes in contact with the causative bacteria or by coming in contact with the infected area of any affected person. It may also be caused due to indirect transfer such as coming in contact with contaminated bed sheets, towels, clothes, toys etc.


• The staph bacteria cause the spread of Indian fire rash to the skin surrounding the affected area. The toxin attacks the protein which is responsible for holding skin cells together. If this protein is damaged then the causative bacteria spreads rapidly.


• Potentially anyone belonging to any age group can develop Indian fire rash. However it is most common among children belonging to 2 to 8 years of age. The reason that children are more vulnerable to this infection is their underdeveloped immune systems. It should be noted here that strep and staph bacteria grow in conditions such as close contact of group of people or public places.

Treatment of Indian fire rash

Apart from much obvious prevention such as staying physical contact with infected individuals avoid touching their belongings, there are some other methods of treatments such as:

• Mix 1 tbsp. of white vinegar with pint of water and soak the infected area for 10 to 20 minutes.


• Maintain good hygiene conditions such as keeping the infected area clean all the time.


• After washing the infected skin areas, dry it and apply over the counter topical antibiotics for 2 to 4 times a day.


• Oral and topical antibiotics may be prescribed by the doctor.

Indian Fire Rash Pictures

Signs of Mercury Poisoning

Signs of Mercury Poisoning
Mercury and its compounds have several effects on body functions and tissues. Surprisingly biological and modern industrial processes add mercury compounds at extremely high levels. Mercury is used in various industries such as manufacturing chemicals, paints and household items, fungicides and pesticides. Not only do the consumer goods contain mercury but the air is also contaminated with mercury vapors, dusts and fumes. Water also contains potentially high mercury levels through effluent wastes which contain mercury in varied forms. It is most likely that mercury in water gets converted into organic mercurial by the action of bacteria in muddy sediments which as a result is concentrated by the fishes or any other aquatic form which are consumed by men.

Mercury in any form is poisonous. Mercury poisoning may be caused due to ingestion, injection, vapor inhalation or absorption through skin. Intoxication caused in men may vary depending on the mode of contact with mercury and type of mercury contacted. The signs and symptoms of mercury poisoning are visible only after weeks or months have passed of exposure to mercury.

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Acute mercury poisoning

Accidental and suicidal ingestion of mercury salts like mercuric chloride cause acute mercury poisoning and following symptoms will occur. Digestive tract gets inflammated and abdominal cramps with nausea may occur. Within few hours of ingestion, the person gets vomiting and bloody diarrhea. The mercury that was absorbed is concentrated in kidneys and this result in poisoning of the blood-filtering structures thereby reducing or cessation of the urine output. Consequently toxic substances get accumulated in the bloods and causes death.

Chronic mercury poisoning

Chronic mercury poisoning is caused due to the occupational inhalation of mercury vapors, dust and volatile organic mercurial. It may also be a result of mercury salts like mercuric nitrate absorption through skin. The symptoms of chronic mercury include metallic taste and excess of saliva is formed. Membranes in the mouth gets inflammated, teeth loosen up and a blue line if formed on the gum. These symptoms are accompanied by pain, tremor, numbness, weight loss, loss of appetite, depression, tendency to withdraw along with other changes in mental and personality.

Other mercury poisoning

There are some mercurial compounds that are used as diuretics i.e. used to increase the production of urine. If the person develops sensitivity reactions to these compounds, then he may experience hives, asthma, skin lesions and even death. Certain ointments containing mercury can also cause mercury poisoning. Use of such ointments or ingestion of calomel may result in symptoms such as rash, fever and enlargement of spleen as well as lymph nodes. Acrodynia or pink disease, a disorder common among infants and small children is cause due to phenyl mercuric propionate, an organic mercury compound that is mixed in house paints to prevent the mold growth. The symptoms of pink disease include insomnia, irritability, loosening of teeth, loss of appetite, red skin and inflammation of mouth.

Organic mercurial compound

Mercury poisoning due to organic mercurial compounds is known as Minamata disease and involves lesions of central nervous system. The term Minamata is due to the outbreak of mercury poisoning that occurred in Minamata, Japan in 1950s. The Minamata disease is characterized by the weakening of muscles, impairment of cerebral functions, loss of sight, coma, paralysis and death. Also, the seabirds and household cats who fed on fish in Minamata showed the symptoms of same disease. The source of mercury that caused outbreak was supposed to be some mercury effluent from factory. In addition, the farmers who seeds treated with organic mercury compound in grain seeds reported the similar symptoms.

Inorganic mercury poisoning

Mercury poisoning occurs when inorganic mercury is swallowed. The symptoms vary depending on how much amount is swallowed. Symptoms include burning in stomach and throat, vomiting and bloody diarrhea. When inorganic enters the blood, kidney and brain are severely affected. This causes permanent kidney damage or kidney failure and death.

Sources of exposure

The sources of exposure to elemental mercury are batteries, dental amalgams, electroplating, barometers, calibration instruments, bronzing, fingerprinting products, infrared detectors, fluorescent lamps, mercury lamps, neon lamps, manometers, thermometers, semiconductor cells, photography, paper pulp industry, paints, silver and gold production.

The sources of inorganic mercury exposure include perfume industry, taxidermy production, antisyphilitic agents, disinfectants, cosmetics, acetaldehyde production, explosives, chemical laboratory, embalming, mercury vapor lamps, the perfume industry, ink manufacturing, fur hat processing, spermicidal jellies, vinyl chloride production, tattooing, mirror silvering and wood preservation.

The sources of organic mercury exposure are antiseptics, fungicides, insecticides, bactericides, embalming agents, pathology products, histology products, laundry products, diaper products, farming products, seed preservation, contaminated food, sea food, and histology products.

There are some fish that can collect potentially higher levels of mercury. Anyone who eats such fish frequently can build up higher level of mercury in their body. Depending on the type, Tuna is considered to have very high mercury content. As such even if you eat it raw or cook it, Tuna will always contain similar amount of mercury. Shark, king mackerel, tilefish and swordfish may also have higher mercury content.

Celiac disease symptoms in women

Celiac disease symptoms in women
Also known as celiac sprue and gluten-sensitive enteropathy, celiac disease is a digestive and autoimmune disorder that may result in damage of lining of small intestine particularly when gluten foods are eaten. The intestines get inflamed and villi are damaged. Villi are hair-like structures present on the intestinal lining and are responsible to absorb nutrients from food. The damage caused to intestines results in difficulty absorbing nutrients such as iron, folate, fat and calcium. Basically if the villi get damaged, nutrients cannot be absorbed and results in malnourishment irrespective of the diet person takes.

As compared to men, women are more frequently diagnosed with celiac disease. In fact about 65% of the people diagnosed with celiac disease are females. But the common symptoms of celiac disease such as fatigue, diarrhea and weight loss are most likely to occur in men than women. Women diagnosed with this disease usually do not report gastrointestinal symptoms before developing common symptoms.

Some of the common symptoms associated with celiac disease include diarrhea, bloating, frequent abdominal pain and constipation. However celiac is most commonly reported among women experiencing following conditions:

• Miscarriage


• Early menopause


• Stillbirth


• Unexplained fertility


• Chronic fatigue


• Caesarean delivery


• Iron deficiency or anemia


• Musculoskeletal issues such as joint pain, muscle pain and muscle cramps


• Sores in mouth


• Osteopenia and osteoporosis


• Irregularities in menstruation cycle or absence of menstruation


• Decreased period of breastfeeding


• Severe skin rash problem

There can be varying reasons of developing celiac disease among women. Some of the common celiac disease symptoms in women are explained below:

Infertility

Of all the women with infertility, around 8% of those having unexplained or unidentified reasons of fertility, celiac disease is a reason of infertility among such women. In the study conducted, most of the women having celiac disease as the reason of infertility did not develop digestive problems. Therefore researchers advice that all the women for who reasons of infertility are not known should be tested for celiac disease.

Women with celiac disease may develop infertility because of nutritional deficiencies which is the most common reason among newly diagnosed women with celiac disease. However it is still unclear as to why people with undiagnosed celiac disease have infertility. Malnutrition is one possible reason but actual reason is still be researched.

Problems in pregnancy

If you haven’t been diagnosed celiac disease and you are pregnant then it is most likely that you experience problems in your pregnancy. Most common problems that occur in pregnancy among women will celiac disease are gestational hypertension, intrauterine growth restriction, anemia, risk of miscarriage and placental abruption.

Repeated miscarriage and stillbirth are also the symptoms of women having celiac disease. If a woman faces such problems in her pregnancy, she should immediately consult her doctor. In some cases, following a gluten-free diet also helps to get a healthy pregnancy.

Among young women late first periods, irregular menstruation, pelvic pain, early menopause, endometriosis are few symptoms of celiac disease.

Thyroid disorders, severe anemia, osteoporosis and multiple sclerosis:

Women with thyroid disorders are more often linked with celiac disease. Of all the people with autoimmune thyroid disorder, around 8 % of them are most likely to have celiac disease irrespective of the fact how severe is the disease.

Anemia, which is a common problem that women experiences during gestation period, is also related to unexplained celiac disease among women. In one of the study, it was found that almost 40% of the women were diagnosed with anemia before they were identified with celiac disease. Therefore physicians check for celiac disease if they get a case of unexplained anemia. This type of condition is related to the nutritional deficiency particularly related to problem in absorbing the iron.

Osteoporosis is another common condition among women that is associated with celiac.  Osteoporosis and celiac together are associated with nutritional deficiencies such as calcium, magnesium and Vitamin D. It will help if the suffering patient takes gluten-free diet in such a condition.

Multiple sclerosis is another disease among women. Although not much but multiple sclerosis is also associated with celiac disease. In the studies conducted so far, not all but some of the women with multiple sclerosis were diagnosed with celiac as well.

Gastrointestinal symptoms

Most likely women diagnosed with celiac will first develop non-digestive symptoms and then digestive symptoms. If you experience digestive problems frequently you should surely take up a test for celiac. In a study conducted, it was established that some women suffer from bloated stomach and later it turned out to be celiac symptom. Others can have diarrhea or gastro esophageal reflux disease as their first celiac symptom.

Some women may also experience irritable bowel syndrome and then they are identified with celiac disease afterwards. However it is also possible that people suffer only from irritable bowel syndrome and physicians are mistake it to be celiac.

Teratoma – Images, Symptoms, Causes, Types, Treatment

Teratoma – Images, Symptoms, Causes, Types, Treatment
A teratoma is a kind of tumor that has cells from other organs. These cells can be those of hair, teeth, brain or even eyes.  The tumor will generally never contain an entire organ but only the tissues from an organ. Because of the different kinds of organs the cells of the tumor may be derived from, it sometimes resembles a distorted foetus and hence its name ‘Teratoma’. Teratoma in Greek means a monster.

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3 Types of Teratoma (based on the types of cells the tumor is made of)

• 3.1 Cystic Teratoma
• 3.2 Solid teratoma
• 3.3 Mixed teratoma
  

4 Teratoma tumor diagnosis

5 Treatment

6 Teratoma images

Teratoma can be of two kinds based on the way they spread

A mature tumor is generally benign and it is more commonly found in women while on the other hand malignant tumor is immature and more commonly found in men. A benign tumour is non cancerous and does not spread around to other tissues and organs while a malignant tumour is cancerous in nature and hence more dangerous.

The teratomas are present right since child birth or even before the birth in foetus itself. But sometimes they are too small to be diagnosed and their presence is realised only in later childhood or adulthood.

Teratomas can be of different kinds based on their location

• 
  Sacrococcygeal Teratoma
  
  

A sacrococcygeal teratoma is the one that grows near the tail bone or coccyx in a foetus. It is generally benign in nature and can be easily removed. But the greatest problem is that sometimes the tumour may grow to very large size. The foetus has to work twice; pump blood for itself as well as for the tumour. This may lead to heart failure in the growing foetus.

• 
  Cervical Teratoma
  

Cervical teratoma is the one that grows near the neck region. Its biggest problem that it causes is the distortion or compression of the air passage of the foetus. As a result of which after child birth the baby may face problems in breathing or may not be able to breathe at all.

• 
  Mediastinal Teratoma
  
  

Mediastinal teratoma is the one that occurs in the chest area. Between the lungs in the space surrounding the heart. Again like all other teratoma it may consist of cells belonging to any organ of the body. Its major drawback is that it may cause the heart to be pushed more towards the diaphragm and the lungs to be squeezed more towards the walls.

Most of the teratoma can be diagnosed in prenatal MRI. If they are diagnosed prenatal, they can also be treated at an early stage.

Types of Teratoma (based on the types of cells the tumor is made of)

Cystic Teratoma
 Cystic tumour is comprised of cysts that are large spaces filled with fluid. The cystic teratomas are like balloons filled with liquid. There could be a single cyst or multiple cysts which are separated by means of membranes.

Solid teratoma
A solid teratoma is made up of firm and solid tissues. They are very rich in blood supply and blood vessels run throughout the tumour cells tissues.

Mixed teratoma

Most of the tumours are of mixed kind; that is they have both cystic as well as solid teratoma cells within them.

Teratoma tumor diagnosis

The teratoma tumor may grow externally outside the body or they may grow internally inside the body. These tumors may also grow partially outside and partially inside the body. The ones that grow partially inside or completely inside the body are the most complicated ones from treatment perspective. It is because if the teratoma is growing inside a foetus body, there isn’t much that a doctor can do. It is too complicated to operate on something that is present inside the foetus body.

Teratomas are generally diagnosed in prenatal ultrasound. Sacrococcygeal teratoma and cervical teratoma can be easily detected in prenatal ultrasound. For other teratomas like mediastinal teratoma or ovarian teratoma MRI might be required.

Treatment

The only sure shot treatment of teratoma is complete surgical removal from the body. If the teratoma is benign then surgery alone shall cure the problem but if teratoma is of malignant nature then it very important to go for surgery followed by chemotherapy. It shall reduce the possibility of reoccurrence of tumour.

The teratoma is a very serious and dangerous disease. Not only because it may develop into cancerous cells but also because it may lead to great disturbances inside the patient’s body. For example, if someone is suffering with ovarian teratoma and the teratoma tissue comprise of brain cells. In this case when the white blood cells attack on the teratoma cells they also attack on the patient’s brain, because brain cells are made up of similar kind of cells as the teratoma. The immune system may begin to destroy the actual brain cells as well along with teratoma cells. This may lead to delusion, loss of memory and other such complications. This is only one such example, but in reality teratoma could prove to be very fatal in certain cases.

Teratoma images

Dermatomyositis

Dermatomyositis
Dermatomyositis is an inflammatory myopathy in which the muscles get inflamed. This disorder affects usually the skin and muscles but in some cases it can also affect joints, lungs, and esophagus or may be heart. The most common symptom of this inflammatory disease is a weakness in muscles.

It is a not so common inflammatory disease characterized by the weakness of muscle and skin rash. It can occur both among the children as well as adults. The adults age group affected by this disease is 40s to 60s and among children the age groups varies between 4 to 16 years. Generally dermatomyositis occurs in females and less commonly in males.

There are treatments which can clear the skin rash fully and can help regain muscle strength.

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3 Dermatomyositis prognosis

4 Treatment for dermatomyositis

• 4.1 When to consult a doctor

5 Dermatomyositis pictures

Signs and symptoms of dermatomyositis

There are many signs and symptoms of dermatomyositis which can help you identify this skin disorder. In almost 40% of the individuals, the onset of dermatomyositis is accompanied by skin disease. Following are the symptoms of cutaneous or beginning of dermatomyositis:

• Scaly scalp or hair loss


• Pruritis of skin lesions


• Eruption on exposed skin

Dermatomyositis is associated with problem in muscles. The muscle disease may precede or follow the skin disease. Following are the muscle problems related to dermatomyositis:

• Proximal muscle weakness


• Sometimes muscle tenderness may occur


• Muscle fatigue particularly when walking, combing hair, climbing stairs, standing after sitting for long etc.

Along with the above mentioned problems, dermatomyositis also includes systematic symptoms such as:

• Dyspnea


• Dysphagia


• Dysphonia


• Arthralgia


• Arrhythmia


• Malignancy

Children with dermatomyositis also develop flexion contracture in ankles and extra muscular manifestations including:

• Dysphagia which is much similar to scleroderma


• General problems like fever, weight loss, malaise, arthralgia and Reynaud phenomenon.


• Gastrointestinal ulcers and infections


• Contracture joints


• Pulmonary and interstitial lung disease


• Atriventricular problems, dilated cardiomyopathies and tachyarrhythmia


• Subcutaneous calcification

Other symptoms of dermatomyositis that occur in almost everyone suffering from this skin disease include following:

• Difficulty in swallowing


• Fatigue and weight loss


• Fever


• Muscle pain and tenderness


• Problems in lungs


• Calcinosis i.e. hardened deposit of calcium underneath the skin.


• Gastrointestinal ulcers and perforations in intestine which is most common among children.

Diagnosis of Dermatomyositis

To diagnose if the person is suffering from cutaneous dermatomyositis following examinations are done:

• Flat, red rash on face, upper trunk and rest parts of the body such as neck, anterior chest, knees, back and shoulders and elbows.


• Pathognomonic cutaneous features including Gottron papules and Heliotrope.


• Other features include periungual and cuticular changes, Malar erythema, violaceous erythema, violaceous erythema on extensor surfaces and poikiloderma in photosensitive distribution.

The extent of muscle involvement in dermatomyositis is examined through following:

• Distal strength, tendon reflex or sensation.


• Quadriparesis


• Flexor muscles and extensor muscles are affected with extensor muscles usually getting affected more than flexor muscles.

Tests and Imaging studies for dermatomyositis
There are a number of tests for testing dermatomyositis. Some of the laboratory and other related studies include:

• Electrocardiography


• Antinuclear antibody levels


• Studies related to pulmonary function


• Myositis-specific antibodies


• Studies to determine muscle enzyme levels

Imaging studies to detect dermatomyositis include the following: Magnetic Resonance Imaging, CT scan, Chest radiography, ultrasonography, electromyography and Barium shallow.

In order to evaluate the symptoms of dermatomyositis, following procedures are available: Skin biopsy, muscle biopsy and esophageal manometry.

Dermatomyositis prognosis

Though most patients survive, there is a chance of disability. Remission is evident in 22 percent of the cases. Children with severe condition may end up with contractures.  Patients require consistent care and therapy. Patients who have cardiac issues, pulmonary problems etc and are above 60 years of age, can have poor prognosis. Death is caused usually due to weakness in the muscles and cardiopulmonary problems.

Treatment for dermatomyositis

If dermatomyositis is caused due to muscle involvement, corticosteroids with or without immunosuppressive agent is helpful. Other things to manage this skin disease are avoiding exposure to sun, using sunscreens, antimalarial agents, topical corticosteroids, mycophenolate mofetil, mycophenolate mofetil, methotrexate and immunoglobulin.

Medications used to treat dermatomyositis are as follows:

• Immune globulins


• Antimalarial agents


• Immunosuppressive agents such as methotrexate, sirolimus, mycophenolate modetil, rituximab and azathioprine.


• Corticosteroids such Prednisone. Prednisone is the best-known medication for dermatomyositis.


• Calcium channel blockers such as diltiazem


• Colchicines, alendronate and warfarin are also used.

Some of the non-pharmacotherapy or general measures to treat dermatomyositis are as follows:

• Avoiding exposure to sun


• Using elevation for head rest while lying on bed


• Spending fair time doing bed rest


• Sun protection


• Physical therapy and rehabilitative measures


• Avoid eating before going to bed

There are also surgical procedures to manage dermatomyositis. Although surgery is not the only option but some patients prefer to take up surgery to remove local area of calcinosis.

When to consult a doctor
If you or your near and dear ones have developed signs and symptoms of dermatomyositis, it becomes important to see a doctor to evaluate the symptoms and diagnose the disease. And if already have been diagnosed with this skin disease and you witness some new symptoms developing then you should immediately consult your doctor.

Dermatomyositis pictures