Skin is the largest organ of the body and is frequently exposed to many toxins and chemicals. Naturally, skin is also a common site of growths, ulcers and many other kinds’ lesions. Furthermore, metabolic derangements and toxicities within the body are frequently expressed on the skin. Xanthomas are a specific kind of condition that involves the skin and are common among the general population. There are numerous reasons why these growths develop. Here we describe this pathological condition in detail, examining the many attributes of this disease to help you understand what this condition really is.
What is a xanthoma?
Basically, a Xanthoma is a fatty growth that starts accumulating beneath the skin and ultimately protrudes from the surface. It can be defined as an overgrowth of xanthelasma, which are also fatty patches beneath the skin. They can be found in children and adults alike, most of the time presenting from the late 30’s onwards. Chronically, as the fat and lipid accumulation increases, the xanthelasma patch starts taking shape of a nodule. Now it is called a Xanthoma. They are formed by the progressive accumulation of lipid-laden foam cells or histiocytes that give the lesion its characteristic pale color. Histiocytes are the macrophage cells of our immune system that are normally present in our tissues to protect us from pathogens. There are different kinds of xanthomas. Usually, these lesions indicate lipid disorders, with lipid accumulation as the primary problem. They can be present when a client has normal cholesterol levels as well, but this is rare.
Distribution of xanthoma
Xanthomas can be found all over the body. However, they are usually found at certain sites, which include:
- Joints, especially the elbows and the knees
Xanthomas may be single lesions or they may appear as a cluster in an area. It may also involve only one part of the body, or it can affect different parts at once. These lesions can have different sizes and different shapes. Some people may have a xanthoma that is as small as a pinhead, whereas others can have xanthomas as large as grapes. Usually, these lesions appear as small bumps underneath the skin which may have a yellow or an orange color. The lesions can be itchy and may be slighter tender to the touch, however, often there is no pain at all.
Classification of xanthomas
There are many kinds of xanthomas. Some are differentiated due to their color or contents, others are differentiated due to their cause and still others due to the course they take. Here we describe some of the basic types of xanthomas which will help you differentiate and diagnose your condition also.
For more classification and explanation of each Xanthomas classification, just click on a box below.
These lesions are initially separate but may join together to form a cluster. They are firm, but painless are often red-yellow in color. There is a predilection for the knees, the buttocks and the heels, that is, the pressure areas of the body. These xanthomas are primarily associated with hyper-cholesterolemia and increased LDL levels in the blood. Studies have shown improvement in patients who attempt to reduce their blood cholesterol levels.
What is tuberous xanthoma?
Basically, it is a type of clinical presentation of xanthomas that take up positions on extensive surfaces of the body. These commonly include the back of the hand, elbows, and the front of legs, knees, buttocks, and back of the neck. They present as orange-yellow plaques and later on, nodules on the skin surface. The nodular characteristic of this type of xanthoma sets them apart from the other kind of lesion. The tuberous xanthoma is a large lesion that occurs without inflammation and extends well below the level of the dermis to the deeper layers. It can extend as far as the subcutaneous tissues and is firmly adherent to the surrounding structures.
Microscopically, these lesions contain an abundant amount of foam cells. Basically, the foam cells are macrophages. Over time, these macrophages have eaten lots of lipid and cholesterol which has accumulated inside the cell. This led to the formation of foam cells which usually stain with special red stains characteristic for fat. In addition to this, tuberous xanthomas also have cholesterol clefts in their cells, which are identified by their double-refractile property and their ability to stain with a special chemical called the Schultz stain.
What causes tuberous xanthoma?
All xanthomas have a primary cause, the elevated levels of fat in the blood and body. This leads to excessive deposition of fat in tissues, the production of foam cells and eventually xanthomas. Here are some factors that cause this disease.
- Obesity, elevated levels of lipids and cholesterol in the blood are responsible for this condition that results in the availability of fats for consumption by macrophages.
- Hyper-cholesterolemia, the elevated cholesterol in the blood again leads to deposition of cholesterol crystals in the body with the macrophages eating them up and presenting as foam cells and ultimately, xanthomas.
- Genetic diseases, dysbeta-lipoproteinemia, hypo-lipoproteinemia, b-sitosterolemia and familial homozygous cholesterolemia are all diseases that have elevated levels of lipid in the blood and hence predispose to tuberous xanthomas.
Symptoms of tuberous xanthoma
- Gross deformity, the lesions can look unwelcoming to the eye and are a cosmetic disfigurement, which is usually why the patient seeks help.
- Painless, the lesions of tuberous xanthoma are not painful and usually resolve after lipid abnormalities are corrected.
- Hyperpigmentation, the tuberous xanthoma or plaque can lead to increased pigmentation, which causes cosmetic disfigurement.
These symptoms will help you differentiate the condition from other causes. Tuberous xanthoma can be treated easily. Simple dietary and lifestyle modifications can bring about a stunning change. Consider introducing these small changes in your life to avoid xanthomas as well as their associated complications.
These xanthomas are subcutaneous nodules that are associated with tendons and ligaments. They grow slowly and are most common in the hands, feet and at the Achilles tendon. The lesion is also associated with hypercholesterolemia and increased LDL in the blood.
Hyperlipidemia is the root of a number of clinical disorders, it is also the cause of the disfiguring skin lesions called xanthoma. Although the condition does not have any complications of its own, it does signal major disturbances in the system, and is itself, unwelcome to the eye. There are different types of xanthoma, based on the inherent pathology. One type is the tendon xanthoma or the tendinous xanthoma as it is called clinically. Here we tell you about the differentiating features of this xanthoma along with its causes and symptoms.
What are tendinous xanthoma?
These xanthomas are firm swellings that lie deep in the subcutaneous layer of the skin. As the name implies, they are primarily attached to tendons and are commonly found at the Achilles tendon at the ankle and the extension tendons of the fingers. The xanthoma itself is covered by a normal layer of skin and so, only presents as a swelling on the skin surface. The tuberous xanthoma grows very slowly and is asymptomatic at the start. It can take up to 10 years to grow to a size that you can appreciate. Usually, the xanthoma is not identified by patients but discovered accidentally on radiographic study or palpation for other causes.
The firm lesions can grow excessively and result in elevation and distortion of the normal contours of the body. On biopsy and microscopy, the lesion is full of foam cells that are identified by their ability to stain with a special red stain. The tendinous xanthomas, just like the tuberous ones contain cholesterol clefts that can be identified with a Schultz stain. Sometimes these lesions are associated with an inflammation of the tendons or problems in mobility. This can be when the presentation is xanthomas achillies.
What causes tendinous xanthoma?
Going back to the pathophysiology, the problem starts with either the production of elevated levels of Very Low-Density Protein, VLDL, or the decreased utilization of these fatty carriers and their byproducts. Both of the problems lead to elevated levels of lipid in the blood and hence, in this case a presentation of tendinous xanthomas. Here are some conditions that can cause the disease.
- Familial hypercholesterolemia, there is a deficiency of LDL receptors that result in the accumulation of cholesterol laden byproducts of VLDL.
- Obesity, an overall increased level of fat in the body that leads to the accumulation of cholesterol and triacylglycerol in body tissues and the production of fat cells.
- Hypothyroidism, diminishes the utilization of fat by decreasing the core metabolic rate of the body, causing elevated levels of resources in the blood.
- Diabetes, the excessive amount of sugar is converted to fat and stored in tissues where it triggers macrophages to consume it and transform into foam cells.
All of these diseases can lead to the formation of tendinous xanthomas. However, the problem lies with the systemic manifestation of high cholesterol levels in the blood. These patients need to have persistent therapy to avoid complications such as heart and kidney diseases and stroke. With this type of Xanthoma, there can be the chance of the Xanthoma spreading and there have been cases of xanthoma being found inside bone marrow.
As the name sounds, these lesions are small red to yellow papules, appearing in large clusters over the buttocks, shoulders, arms, legs or even the whole body. In certain cases, the xanthomas may appear in the mouth as well. These xanthomas are usually tender and can itch and usually disappear over a few weeks. These xanthomas are caused due to hyper-triglyceridemia and are usually related to diabetes. They can present in a nodular format.
Where there are elevated levels of fat in the blood, the clinical picture automatically points towards xanthomas. These lesions are manifestations of disrupted levels of fat in the body and blood and are a warning sign for a number of complications, however, xanthomas, themselves have a number of types based on their site and etiology. Eruptive xanthoma are a particular type that has a slightly different presentation than the usual xanthomatous plaques. Here we describe what these lesions are along with the causes and certain symptoms of the disease.
What are eruptive xanthomas?
These xanthomas are miniature, yellowish papules that occur in large numbers in the same place. They are primarily found on the buttocks, but can also be found on the shoulders, legs, and arms. Their characteristic feature is that they occur in small crops and are caused due to deposition of lipids in skin tissues. Sometimes these papules can also occur in the mouth and present as an ulcer. Another common feature of eruptive xanthomas that sets it apart is its ability to cause an itch. The lesions are also tender, which makes it important to be differentiated from the usual rash and infections.
As is expected from the name, eruptive xanthomas resemble small pimples and tend to disappear over time. They appear suddenly, just as any rash and early lesions can also have a characteristic red halo around them. However, they do have characteristic foam cells, which are spotted on biopsy or microscopy. The foam cells stain red with a special stain, confirming the diagnosis. These xanthomas do not have cholesterol clefts.
What causes eruptive xanthomas?
Moving on to the pathology, eruptive xanthomas are caused just like an atheromatous plaque. The elevated triglyceride and cholesterol level in the blood filter from the blood vessels into the tissues. Here they are taken up by local macrophages which keep on consuming them, irrespective of their capacity to degrade them. Ultimately, the macrophages transform into foam cells. With eruptive xanthomas, the macrophages set of a local inflammatory process that gives rise to the sudden appearance of numerous papules and the itch. Here are some common causes of eruptive xanthomas.
- Familial hypercholesterolemia type 2a, the disease is caused due to a genetic abnormality in LDL receptor that results in elevated levels of this fat in the body.
- Broad beta hyperlipoproteinemia, caused due to an apoprotein mutation that causes 8/6/17levated levels of triglycerides and cholesterol, exaggerating the condition.
- Hypertriglyceridemia, which commonly occurs in hypertension, obesity, and diabetes. The elevated levels of fat in the blood leads to the formation of xanthomas.
- Diabetes, the excessive sugar is converted into fats and the tissues are surrounded by an inflammatory reaction that is difficult to control, leading to eruptive xanthomas.
Although the genetic conditions can’t be avoided, the lifestyle can always be changed. Simple modifications in diet and an abundance of exercise can help control eruptive xanthomas as well as their complications.
These are the flattering variety of xanthomas which can appear anywhere on the body. However, certain areas are indicative of a particular lesion. For instance, xanthomas at the crease of the palms indicate type 3 dysbetalipoproteinemia. It may also be associated with the other fatty derangements.
Diffuse Plane Xanthomas,
These lesions are due to a rare type of macrophage. The defect results in the presence of an abnormal antibody in the blood called paraprotein. This kind of xanthoma has a strong association with cancers. In fact, studies suggest that 50% of people have the condition are also malignant. The lesions of this xanthoma large and flat and can involve the neck, face, chest, buttocks, armpits and groin.
Plane Xanthomas, an overview
There are a number of different versions of the same disease, some more aggressive than the last. Plane Xanthomas and diffuse plane Xanthomas, are skin lesions caused due to elevated lipids in the body. Plane xanthoma is one kind of skin disorder that commonly occurs among people with high levels of blood cholesterol or triglycerides. Here we describe the exact features of this skin disorder, along with the causes and symptoms to give you a broad view of the disease.
What are plane xanthomas?
Plane xanthomas are similar to the conventional xanthomas. They present as flat papules or patches in the body that can occur anywhere. A particular characteristic of these lesions is to involve the crease of the palm. This combined with tuberous xanthomas is indicative of type 3 dysbetalipoproteinemia. Another similar condition that involves plane xanthomas is the diffuse variety, which is caused due to histiocytosis. It resembles the plane xanthomas and is important to diagnose because both are treated differently.
The skin appears normal in color, however, there are visible bumps on the skin that resemble an eczematous rash. However, the skin is not red and itch is minimal. This can help differentiate plane xanthomas from eczema rash. Over the years, the lesion can spread and include wide areas. It then gives off an appearance of yellowish plaques that are adherent to the skin but do not come off.
The cause of plane xanthomas
Plane xanthomas are caused due to high levels of lipid in the blood. Just like most other forms, the elevated levels of lipids filter from the blood into the tissues. This activates the local macrophages which approach to engulf them. However, they are unable to digest these fat particles, and in turn swell themselves, forming foam cells. Foam cells have minimal activity and cannot be degraded by the body. As more and more foam cells accumulate, they impart the characteristic yellow color, along with the elevated skin. Both of these can cause significant cosmetic disfigurement later on. The common causes of plane xanthomas include:
- Hypertriglyceridemia, again this is due to obesity, diabetes, hypertension which can compound a number of problems.
- Hyperlipoproteinemias, certain genetic diseases can result in impaired degradation or excessive production of lipids, which cause high levels in the blood.
- Hypercholesterolemia, genetic problems can result in a malformed LDL receptor leading to high levels of LDL. This lipoprotein contains cholesterol, which can accumulate in tissues and lead to plane xanthomas.
All of these factors come together to aggravate the condition. However, the plane xanthomas can disappear over time, once the blood lipid levels are controlled. Al you need to do is change your lifestyle for an effective cure.
These are xanthoma like lesions caused due to a particular kind of histiocytes. In this condition, the lipid metabolism is surprisingly normal. The skin is full of small reddish-brown bumps, hundreds in number. They tend to spread evenly, all over the body, however, they may particularly affect the armpits and groin. Some can even invade the mucosal lining of the mouth and the nose. Strangely, 40% of people afflicted with this disease develop diabetes insipidus. If worsened, it may involve the internal organs also.
One kind of presentation of xanthomas is the xanthoma dissemination, which as it name suggests, leads to widespread problems. Here we describe the nature of these lesions as well as the common causes and symptoms.
What is xanthoma dissemination?
Basically, this is a rare kind of disease that is caused due to excessive proliferation of mast cells. The lesions occur in groups of hundreds of small lesions that appear as small yellowish brown bumps. The lesions usually appear on both sides of the face and trunk and can cause a considerable amount of discomfort. In addition to this, about 30% people also have the xanthoma dissemination in the mouth, airways and the eyes. Over time, the small bumps join together and can form a thickened skin, giving off a huge rash like appearance.
In addition to this, about half of the people with xanthoma dissemination go on to develop diabetes insipidus, which can potentially upset the lipid balance. The disease results in uncontrollable fluid loss and excessive thirst. However, this disease is not due to the xanthoma dissemination, but due to the underlying pathology. Xanthoma dissemination can also affect the internal organs including lungs, liver, and kidneys, complicating the clinical presentation. The disease usually occurs in boys and in young age and is self-limiting. However, at times, xanthoma dissemination can extend for many years.
What is the cause of xanthoma dissemination?
This singular xanthomata disease is not caused due to elevated lipid levels. On the contrary, lipid levels are normal whereas the problem lies in the histocytes. The disease is called histiocytosis, which means an excessive proliferation of the macrophages. A large number of macrophages consume all the cholesterol or lipids available and give rise to characteristic symptoms of this disease. However, lipid abnormalities can exaggerate the conditions. Genetic abnormalities including beta-lipoproteinemia, hyper-cholesterolemia, and hyper-triglyceridemia can cause exaggeration of the entire disease. Diabetes, hypertension, and obesity have also been known to play an adjutant role.
All of these diseases point towards the fact that xanthoma dissemination may be primarily a genetic disorder, but it is also influenced by the blood lipid levels. It is always important to control your diet and modify your lifestyle in order to improve the condition. Medical treatment can help, but in the end, long term disease control can only be achieved if you attempt to alter your lifestyle for the better.
What causes Xanthomas?
So, what is the reason behind these lesions? Why do they form and what is the link of the predisposition of certain parts of the body? Well, usually, xanthomas result from a genetic defect in lipid metabolism. Normally, lipids combine with protein to form lipoproteins, which are associated with the transportation of lipid. There are different kinds of proteins, but it’s the LDL and the VLDL that are responsible for the derangements. Many genetic defects, including hypolipoproteinemia or some other defect such as hypertension, hypothyroidism or nephrotic syndrome may be at the core of the disease. The pathogenesis involves an increasingly elevated number of lipoproteins which are taken up by tissue macrophages. They are partially digested, which results in the formation and deposition of macrophages in the skin and ultimately, Xanthoma.
There are many ways of diagnosing the condition. As a small bump beneath the skin may mean anything, proper work up is required. Plus, as the disease is associated with some chronic, debilitating diseases, screening for diabetes, hypertension, and other heart diseases is of significant value. Normally, serum lipoprotein levels, blood tests, and urine tests are performed. Genetic defects can be identified by DNA profiling or by using specific serum markers.
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