Rosacea is a long-term disease that affects your skin and sometimes your eyes. It causes redness and pimples. Rosacea is most common in women and people with fair skin. It most often affects middle-aged and older adults.

In most cases, rosacea only affects the face. Symptoms can include

• Frequent redness of the face, or flushing
• Small, red lines under the skin
• Acne
• A swollen nose
• Thick skin, usually on the forehead, chin, and cheeks
• Red, dry, itchy eyes and sometimes vision problems

No one knows what causes rosacea. You may be more likely to have it if you blush a lot or if rosacea runs in your family. Rosacea is not dangerous. There is no cure, but treatments can help. They include medicines and sometimes surgery.

Rosacea is a long-lasting (chronic) skin disease that affects the face, primarily the forehead, nose, cheeks, and chin. The signs and symptoms of rosacea vary, and they may come and go or change over time.

There are three main types of rosacea, categorized by their primary signs and symptoms. Erythematotelangiectatic rosacea causes skin redness and warmth (flushing) and visible clusters of blood vessels (telangiectasia). Papulopustular rosacea causes skin redness, swelling, and pus-filled bumps called pustules. Phymatous rosacea is characterized by thickened skin on the face and an enlarged, bulbous nose (rhinophyma). People with rosacea may feel itching, stinging, or burning sensations in affected areas. Often, the disorder affects the eyes, causing abnormal inflammation of the eyelids and eyes (ocular rosacea). This inflammation can cause dryness, redness, and irritation of the eyes and may affect vision.

Rosacea is a common skin condition. Depending on the population studied and the criteria used to diagnose the disorder, estimates of disease prevalence range from less than 1 percent to more than 20 percent of the population. The condition has been reported most frequently in fair-skinned people, particularly those of western European ancestry. However, the signs and symptoms of rosacea are easier to notice in fair-skinned people than in dark-skinned people, and few studies have investigated the prevalence of the disease in people with darker skin.

Rosacea is diagnosed most often in early to mid-adulthood. It is unknown how common the disease is in children because most studies have involved adults. For reasons that are unclear, women appear to be affected more often than men.

Some people think of a rosy complexion as a sign of good health. But red patches on the face may point to something more troubling—a long-lasting skin disorder called rosacea.

Rosacea (pronounced ro-ZAY-she-ah) may start as redness on the cheeks, nose, chin or forehead. It might even look like an outbreak of pimples. But over time, the condition can worsen. inflammation can make affected skin swollen and sensitive. Red, thick, bumpy skin may appear on the face, causing discomfort and distress. Up to half of people with rosacea also develop eye problems. Eyelids may become inflamed, and vision impaired.

Rosacea affects an estimated 14 million Americans. The causes of rosacea are unclear. The condition tends to run in families, so genes likely play a role.

Although anyone can get rosacea, lighter-skinned populations are at greater risk. People who blush frequently may also be more vulnerable. It usually first strikes in middle age, when people are between 30 and 60 years old. Women are 3 to 4 times more likely than men to develop rosacea, especially during menopause. But rosacea symptoms are generally more severe in men.

Rosacea symptoms can come and go, flaring up for weeks or months and then subsiding. Over time, the facial redness can deepen and become more permanent.

People are often embarrassed by rosacea flare-ups. “The physical appearance can be debilitating for people, causing them to lose work or to have low self-esteem,” says Dr. Richard Gallo, a skin expert at the University of California, San Diego. “Many psychological problems are the consequence of having this red, puffy face.”

Things that cause flare-ups are called triggers. Although they vary from person to person, common triggers include hot foods or beverages, spicy foods, alcohol, extreme temperatures, sunlight, stress, exercise and hot baths.

To identify and then avoid triggers, Gallo says, “take a very careful record of the things that you eat and the things you are doing. Then also record when your rosacea is flaring, and see if you can put the two together.”

Because rosacea tends to worsen over time, early detection is critical. There’s no test for rosacea, and several other conditions can have similar symptoms. Your doctor needs expertise and experience to make a diagnosis. A dermatologist—a physician who specializes in skin disorders—can aid with rosacea detection and care.

Although there’s no cure for rosacea, medical treatments and lifestyle changes can reduce symptoms. Antibiotics taken orally or applied to the skin can lessen redness and bumps. For more serious cases, laser surgery can remove visible blood vessels, reduce redness or correct thickened, bumpy skin.

NIH-funded scientists continue to search for new insights into rosacea. Gallo and his colleagues have found that some people with rosacea have high levels of inflammation-causing chemicals in their skin. The researchers are using this knowledge to develop experimental therapies that are now being tested in clinical trials.

If you have troubling facial redness, talk to a dermatologist or other health care provider. Taking steps early on will help to control and reduce the symptoms of rosacea.

Signs of Rosacea

• Frequent redness (flushing) on the face, especially on the forehead, nose, cheeks and chin.
• Small red lines under the skin.
• Thickened skin or constant redness along with sometimes-painful bumps.
• Inflamed eyes or eyelids.
• Swollen, red, bumpy nose, especially in men.

Anyone can get rosacea, but it is more common among these groups:

• Middle-aged and older adults.
• Women, but when men get it, it tends to be more severe.
• People with fair skin, but it may be underdiagnosed in darker skinned people because dark skin can mask facial redness.

People with a family history of rosacea may be at increased risk of the condition, but more research is needed to understand the role played by genetics.

The causes of rosacea are complex and not well understood. Both genetic and environmental factors appear to influence the disorder, although many of these factors have not been identified.

Studies suggest that rosacea is associated with abnormalities of blood vessels (the vascular system) and the immune system. In people with this condition, blood vessels expand (dilate) too easily, which can cause redness and flushing of the skin. Rosacea is also associated with abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders, such as bacteria. Abnormal inflammation impairs the skin's ability to act as a protective barrier for the body. Researchers believe that a combination of blood vessel abnormalities, abnormal inflammation, and a disruption of the skin barrier underlie the signs and symptoms of rosacea.

Among the genes thought to play roles in rosacea are several genes in a family called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders. Each HLA gene has many different variations, allowing each person's immune system to react to a wide range of foreign proteins. Certain variations in HLA genes likely contribute to the abnormal inflammation that is characteristic of rosacea.

Another group of genes that appear to be involved in the development of rosacea are glutathione S-transferases (GSTs). The proteins produced from these genes help protect cells from oxidative stress. Oxidative stress occurs when unstable molecules called reactive oxygen species (ROS) accumulate to levels that can damage or kill cells. Variants in several GST genes have been associated with an increased risk of developing rosacea. Researchers suspect that these variants reduce the ability of GSTs to protect skin cells from oxidative stress, leading to cell damage and inflammation.

Environmental (nongenetic) factors can also increase the risk of developing rosacea and trigger its symptoms. Among the best-studied risk factors for rosacea is exposure to ultraviolet (UV) radiation from the sun. UV radiation causes oxidative stress that can damage skin cells. Studies suggest that having an overgrowth of certain microorganisms that live on facial skin, particularly mites called Demodex folliculorum, may also contribute to the development of rosacea. These mites stimulate an abnormal immune response and disrupt the normal skin barrier. Other factors that can trigger the signs and symptoms of rosacea or make them worse include heat exposure, spicy food, cigarette smoking, and alcohol, all of which cause blood vessels in the skin to dilate.

Normal Function

The HLA-DQA1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DQA1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. The HLA-DQA1 gene belongs to a group of MHC genes called MHC class II. MHC class II genes provide instructions for making proteins that are present on the surface of certain immune system cells. These proteins attach to protein fragments (peptides) outside the cell. MHC class II proteins display these peptides to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.

The protein produced from the HLA-DQA1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DQB1. Together, they form a functional protein complex called an antigen-binding DQαβ heterodimer. This complex displays foreign peptides to the immune system to trigger the body's immune response.

Each MHC class II gene has many possible variations, allowing the immune system to react to a wide range of foreign invaders. Researchers have identified hundreds of different versions (alleles) of the HLA-DQA1 gene, each of which is given a particular number (such as HLA-DQA1*05:01).

Health Conditions Related to Genetic Changes

Celiac disease

At least two specific combinations of HLA gene variants (HLA haplotypes) have been found to increase the risk of developing celiac disease, a disorder in which inflammation damages the intestinal tract and other organs and tissues. One of these haplotypes, known as DQ2, is composed of the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*05:01 or HLA-DQA1*05:05 bound to the protein produced from HLA-DQB1 gene variants known as HLA-DQB1*02:01 or HLA-DQB1*02:02. The other haplotype, known as DQ8, is composed of the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*03:01 or HLA-DQA1*03:02 bound to the protein produced from the HLA-DQB1 gene variant known as HLA-DQB1*03:02.

The DQ2 and DQ8 haplotypes, which may occur separately or together, seem to increase the risk of an inappropriate immune response to the protein gluten, which is found in wheat, rye, and barley. This immune system malfunction results in the damage to the body's organs and tissues that occurs in celiac disease. However, the DQ2 and DQ8 haplotypes are also found in 30 percent of the general population, and only 3 percent of individuals with these haplotypes develop celiac disease.

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Juvenile idiopathic arthritis

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Narcolepsy

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Rosacea

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Type 1 diabetes

Combinations of variations in the HLA-DQA1 gene and other HLA genes affect the risk of type 1 diabetes. Type 1 diabetes is characterized by high blood sugar (glucose) levels resulting from a shortage of the hormone insulin and is caused by autoimmune damage to insulin-producing cells in the pancreas.

Type 1 diabetes risk is most increased by two HLA haplotypes involving variations of the HLA-DQA1 and HLA-DQB1 genes and another HLA gene called HLA-DRB1. One haplotype, written as DRB1*03:01-DQA1*05:01-DQB1*02, is called DR3. The other haplotype, written as DRB1*04:01/02/04/05/08-DQA1*03:01-DQB1*02, is called DR4. People at highest risk of developing type 1 diabetes have one copy of the DR3 haplotype and one copy of the DR4 haplotype in each cell. Other HLA haplotypes only mildly increase the risk of type 1 diabetes, while some haplotypes seem to protect against developing this condition. Variations in other genes and environmental factors are also thought to affect the risk of this complex disorder.

Autoimmune disorders

Certain normal variations of the HLA-DQA1 gene have been associated with increased risk of autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear how different versions of the HLA-DQA1 gene influence the risk of developing autoimmune disorders. These conditions are thought to result from a combination of multiple environmental and genetic factors. Changes in other HLA and non-HLA genes, some of which remain unknown, also likely contribute to the risk of developing these complex conditions.

Other disorders

Normal variations in the HLA-DQA1 gene can affect the body's ability to recognize and react to foreign invaders (pathogens). For example, variations of this gene have been shown to increase or decrease a person's chance of getting infections such as hepatitis B and leprosy or may affect the severity of illness if infection occurs.

A particular variant of the HLA-DQA1 gene known as HLA-DQA1*02:01 increases the risk of liver damage in women with advanced breast cancer treated with a drug called lapatinib. Researchers suggest that the variant may increase immune system sensitivity to the drug, resulting in inflammation that damages the liver.

Other Names for This Gene

• DC-1 alpha chain
• DC-alpha
• DQ-A1
• FLJ27088
• FLJ27328
• GSE
• HLA class II histocompatibility antigen, DQ alpha 1 chain
• HLA class II histocompatibility antigen, DQ alpha 1 chain precursor
• HLA class II histocompatibility antigen, DQ(W3) alpha chain
• HLA-DCA
• HLA-DQA
• leucocyte antigen DQA1
• leukocyte antigen alpha chain
• MGC149527
• MHC class II antigen
• MHC class II DQA1
• MHC class II HLA-D alpha glycoprotein
• MHC class II HLA-DQ-alpha-1
• MHC class II surface glycoprotein
• MHC HLA-DQ alpha

Genomic Location

Normal Function

The HLA-DRB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DRB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. The HLA-DRB1 gene belongs to a group of MHC genes called MHC class II. MHC class II genes provide instructions for making proteins that are present on the surface of certain immune system cells. These proteins attach to protein fragments (peptides) outside the cell. MHC class II proteins display these peptides to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.

The protein produced from the HLA-DRB1 gene, called the beta chain, attaches (binds) to another protein called the alpha chain, which is produced from the HLA-DRA gene. Together, they form a functional protein complex called the HLA-DR antigen-binding heterodimer. This complex displays foreign peptides to the immune system to trigger the body's immune response.

Each MHC class II gene has many possible variations, allowing the immune system to react to a wide range of foreign invaders. Researchers have identified hundreds of different versions (alleles) of the HLA-DRB1 gene, each of which is given a particular number (such as HLA-DRB1*04:01).

Health Conditions Related to Genetic Changes

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Autoimmune Addison disease

Certain variations in the HLA-DRB1 gene have been linked to an increased risk of developing an autoimmune disorder called autoimmune Addison disease. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. In autoimmune Addison disease, the immune system attacks the adrenal glands, which are small hormone-producing glands located on top of each kidney. Loss of hormones produced by the adrenal glands leads to the features of the condition, which include extreme tiredness (fatigue), nausea, low blood pressure (hypotension), and abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction such as the armpits, elbows, and knuckles. A particular HLA-DRB1 gene variant called HLA-DRB1*04:04 is the most well-known risk factor for autoimmune Addison disease.

Normally, the immune system responds only to proteins made by foreign invaders, not to the body's own proteins. In autoimmune Addison disease, however, an immune response is triggered by a normal adrenal gland protein; in about 85 percent of people with autoimmune Addison disease, the protein is 21-hydroxylase. 21-hydroxylase is found in the adrenal glands where it plays a key role in producing a variety of hormones that regulate many essential functions in the body. The prolonged immune attack triggered by 21-hydroxylase damages the adrenal glands (specifically the outer layers of the glands known, collectively, as the adrenal cortex), preventing hormone production. A shortage of adrenal hormones (adrenal insufficiency) disrupts several normal functions in the body, leading to the diverse features of autoimmune Addison disease. It is not clear how HLA-DRB1*04:04 and other HLA-DRB1 variations are involved in the inappropriate immune response that causes autoimmune Addison disease.

Crohn's disease

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Graves' disease

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Hashimoto's disease

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Idiopathic inflammatory myopathy

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Idiopathic pulmonary fibrosis

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Juvenile idiopathic arthritis

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Lyme disease

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Multiple sclerosis

Variations in the HLA-DRB1 gene have been associated with an increased risk of developing multiple sclerosis. This condition affects the brain and spinal cord (central nervous system), causing muscle weakness, poor coordination, numbness, and a variety of other health problems. One variant of this gene, called HLA-DRB1*15:01, is the most strongly linked genetic factor for the risk of multiple sclerosis.

Because the HLA-DRB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation that damage nerves and the protective coating surrounding them (the myelin sheath), leading to the signs and symptoms of multiple sclerosis. However, it is unclear exactly what role HLA-DRB1 gene variants play in development of multiple sclerosis. A combination of genetic and environmental factors is likely involved in this condition.

Narcolepsy

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Psoriatic arthritis

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Rheumatoid arthritis

Several common variations of the HLA-DRB1 gene are associated with a person's risk of developing rheumatoid arthritis. This disease causes chronic abnormal inflammation that primarily affects the joints. HLA-DRB1 is one of several genes in the HLA complex that have been associated with rheumatoid arthritis; variations of this gene are the most significant known genetic risk factor for the disease.

The HLA-DRB1 gene variations associated with an increased risk of rheumatoid arthritis affect single protein building blocks (amino acids) in the beta chain. These changes occur near the antigen-recognizing binding groove, which is the part of the protein that attaches (binds) to viral or bacterial peptides. This binding triggers the immune response that attacks foreign invaders. Although the mechanism by which HLA-DRB1 gene variations increase the risk of rheumatoid arthritis is unclear, researchers suspect it is related to changes in peptide binding that stimulate an abnormal immune response. However, many other genetic and environmental factors also contribute to a person's overall risk of developing rheumatoid arthritis.

A few variations of the HLA-DRB1 gene appear to decrease the risk of developing rheumatoid arthritis. It is unclear why these particular changes may be protective.

Rosacea

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Type 1 diabetes

Combinations of variations in the HLA-DRB1 gene and other HLA genes affect the risk of type 1 diabetes. Type 1 diabetes is characterized by high levels of blood glucose, also called blood sugar, resulting from a shortage of the hormone insulin and is caused by autoimmune damage to insulin-producing cells in the pancreas.

Type 1 diabetes risk is most increased by two specific combinations of variations of the HLA-DRB1 gene and other HLA genes called HLA-DQA1 and HLA-DQB1. Combinations of HLA gene variants are called HLA haplotypes. One haplotype, written as DRB1*03:01-DQA1*05:01-DQB1*02, is called DR3. The other haplotype, written as DRB1*04:01/02/04/05/08-DQA1*03:01-DQB1*02, is called DR4. People at highest risk of developing type 1 diabetes have one copy of the DR3 haplotype and one copy of the DR4 haplotype in each cell. Other HLA haplotypes only mildly increase the risk of type 1 diabetes, while some haplotypes seem to protect against developing this condition. Variations in other genes and environmental factors are also thought to affect the risk of this complex disorder.

Autoimmune disorders

Normal variations of the HLA-DRB1 gene have been associated with many other autoimmune disorders, including pemphigus, sarcoidosis, and others listed on this page. Pemphigus is a condition that causes severe blistering of the skin and mucous membranes (such as the moist lining of the mouth). Sarcoidosis is a disorder in which inflammation occurs in many organs and tissues of the body.

It is unclear how different versions of the HLA-DRB1 gene influence the risk of developing autoimmune disorders. These disorders typically result from a combination of multiple environmental and genetic factors. Changes in other HLA and non-HLA genes, some of which remain unknown, also likely contribute to the risk of developing these complex conditions.

Other Names for This Gene

• 2B13_HUMAN
• 2B1F_HUMAN
• 2B1G_HUMAN
• DRB1
• DRw10
• DW2.2/DR2.2
• HLA class II histocompatibility antigen, DR-1 beta chain
• HLA-DR1B
• HLA-DRB
• human leucocyte antigen DRB1
• lymphocyte antigen DRB1
• major histocompatibility complex, class II, DR beta 1 precursor
• MHC class II antigen
• MHC class II HLA-DR beta 1 chain
• MHC class II HLA-DR-beta cell surface glycoprotein
• MHC class II HLA-DRw10-beta
• SS1

Genomic Location

Normal Function

The HLA-DQB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. The HLA-DQB1 gene belongs to a group of MHC genes called MHC class II. MHC class II genes provide instructions for making proteins that are present on the surface of certain immune system cells. These proteins attach to protein fragments (peptides) outside the cell. MHC class II proteins display these peptides to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.

The protein produced from the HLA-DQB1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DQA1. Together, they form a functional protein complex called an antigen-binding DQαβ heterodimer. This complex displays foreign peptides to the immune system to trigger the body's immune response.

Each MHC class II gene has many possible variations, allowing the immune system to react to a wide range of foreign invaders. Researchers have identified hundreds of different versions (alleles) of the HLA-DQB1 gene, each of which is given a particular number (such as HLA-DQB1*06:02).

Health Conditions Related to Genetic Changes

Celiac disease

At least two specific combinations of HLA gene variants (HLA haplotypes) have been found to increase the risk of developing celiac disease, a disorder in which inflammation damages the intestinal tract and other organs and tissues. One of these haplotypes, known as DQ2, is composed of the protein produced from HLA-DQB1 gene variants known as HLA-DQB1*02:01 or HLA-DQB1*02:02 bound to the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*05:01 or HLA-DQA1*05:05. The other haplotype, known as DQ8, is composed of the protein produced from the HLA-DQB1 gene variant known as HLA-DQB1*03:02 bound to the protein produced from HLA-DQA1 gene variants known as HLA-DQA1*03:01 or HLA-DQA1*03:02.

The DQ2 and DQ8 haplotypes, which may occur separately or together, seem to increase the risk of an inappropriate immune response to the protein gluten, which is found in wheat, rye, and barley. This immune system malfunction results in the damage to the body's organs and tissues that occurs in celiac disease. However, the DQ2 and DQ8 haplotypes are also found in 30 percent of the general population, and only 3 percent of individuals with the gene variants develop celiac disease.

Narcolepsy

A version of the HLA-DQB1 gene called HLA-DQB1*06:02 increases the risk of developing the sleep disorder narcolepsy, particularly in people who also have cataplexy. (Cataplexy is a sudden loss of muscle tone in response to strong emotion, such as laughing, surprise, or anger.) It is unclear how HLA-DQB1*06:02 causes this elevated risk. However, there is increasing evidence that narcolepsy is related to a malfunction of the immune system.

The sleep abnormalities associated with narcolepsy likely result from a loss of particular brain cells (neurons) in a part of the brain called the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which have many important functions in the body. In particular, hypocretins regulate the daily sleep-wake cycle. Researchers speculate that an abnormality of the immune system may trigger the loss of hypocretin-producing neurons in people with narcolepsy. However, there is no direct evidence to show that immune system factors are responsible for this loss.

Most people who have narcolepsy with cataplexy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes (including HLA-DQA1). However, these variations are very common in the general population, and only a small percentage of people with particular variations in HLA genes develop narcolepsy. Other genetic and environmental factors, for example certain bacterial and viral infections, also affect the chances of developing this disorder.

Alopecia areata

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Autoimmune Addison disease

MedlinePlus Genetics provides information about Autoimmune Addison disease

Juvenile idiopathic arthritis

MedlinePlus Genetics provides information about Juvenile idiopathic arthritis

Rosacea

MedlinePlus Genetics provides information about Rosacea

Type 1 diabetes

Combinations of variations in the HLA-DQB1 gene and other HLA genes affect the risk of type 1 diabetes. Type 1 diabetes is characterized by high levels of blood glucose, also called blood sugar, resulting from a shortage of the hormone insulin and is caused by autoimmune damage to insulin-producing cells in the pancreas.

Type 1 diabetes risk is most increased by two specific combinations of variations of the HLA-DQB1 and HLA-DQA1 genes and another HLA gene called HLA-DRB1. One haplotype, written as DRB1*03:01-DQA1*05:01-DQB1*02, is called DR3. The other haplotype, written as DRB1*04:01/02/04/05/08-DQA1*03:01-DQB1*02, is called DR4. People at highest risk of developing type 1 diabetes have one copy of the DR3 haplotype and one copy of the DR4 haplotype in each cell. Other HLA haplotypes only mildly increase the risk of type 1 diabetes, while some haplotypes seem to protect against developing this condition. Variations in other genes and environmental factors are also thought to affect the risk of this complex disorder.

Autoimmune disorders

Normal variations of the HLA-DQB1 gene have been associated with several additional disorders. Most of these disorders have an autoimmune basis, which means they occur when the immune system malfunctions and attacks the body's own tissues and organs. Autoimmune disorders that have been associated with HLA-DQB1 include multiple sclerosis, pemphigus, and type 1 diabetes (described below).

Multiple sclerosis is a chronic disorder of the brain and spinal cord (central nervous system) that causes muscle weakness, poor coordination, numbness, and a variety of other health problems. Several variations of HLA-DQB1 appear to increase the risk of developing this disorder. One of these variations, HLA-DQB1*06:02, is the same version of the gene that increases the risk of narcolepsy.

Some evidence suggests that the HLA-DQB1 gene may also play a role in several forms of pemphigus, a condition that causes severe blistering of the skin and mucous membranes (such as the moist lining of the mouth).

It is unclear how different versions of the HLA-DQB1 gene influence the risk of developing autoimmune disorders. These disorders typically result from a combination of multiple environmental and genetic factors. Changes in other HLA and non-HLA genes, some of which remain unknown, also likely contribute to the risk of developing these complex conditions.

Other Names for This Gene

• CELIAC1
• DQB1_HUMAN
• HLA class II histocompatibility antigen, DQ beta 1 chain
• HLA-DQB
• IDDM1
• major histocompatibility complex class II beta
• MHC class II antigen DQB1
• MHC class II antigen HLA-DQ-beta-1
• MHC class II DQ beta chain
• MHC class II HLA-DQ beta glycoprotein
• MHC class2 antigen
• MHC DQ beta

Genomic Location

Because rosacea is a complex disease with both genetic and environmental influences, it does not have a straightforward pattern of inheritance. Studies suggest that people with rosacea are four times more likely to have a family history of the disorder than people without the condition. This increased risk is likely due in part to shared genetic factors, but it may also be related to environment and other nongenetic factors that are shared by members of a family.

Most people only experience some of the symptoms of rosacea, and the pattern of symptoms varies among individuals. While the condition is chronic (long lasting), rosacea often cycles between flare-ups and periods of remission (lack of symptoms).

The symptoms of rosacea include:

• Facial redness. This may start as a tendency to flush or blush, but over time redness may persist for longer periods. It is sometimes accompanied by a sense of tingling or burning, and the reddened skin may turn rough and scaly.
• Rash. Areas of facial redness can develop red or pus-filled bumps and pimples that resemble acne.
• Visible blood vessels. These typically appear as thin red lines on the cheeks and nose.
• Skin thickening. The skin may thicken, especially on the nose, giving the nose an enlarged and bulbous appearance. This is one of the more severe symptoms, and it mostly affects men.
• Eye irritation. In what is termed ocular rosacea, the eyes become sore, red, itchy, watery, or dry. They may feel gritty or as if there is something in them, such as an eyelash. The eyelids may swell and become red at the base of the eyelashes. Styes may develop. It is important to see a health care provider if you have eye symptoms because if left untreated, eye damage and loss of vision can result.

Sometimes rosacea follows a progression, going from temporary flushing of the nose and cheeks, to longer lasting flushing, then to the appearance of a rash and small blood vessels beneath the skin. If left untreated, the skin may thicken and enlarge, leading to firm, red bumps, especially on the nose.

The condition usually affects the center of the face, but in rare cases it can extend to other parts of the body, such as the sides of the face, the ears, neck, scalp, and chest.

There is no specific test for rosacea, so doctors base the diagnosis on the appearance of your skin and eyes, and on your medical history. Your doctor may order tests to rule out other conditions that look like rosacea.

There is no cure for rosacea, but there are ways to make your skin look and feel better. Symptoms of rosacea differ among individuals, so doctors tailor treatments to each person. A combination of self-care measures and medications is typical. Most people respond well to therapy, but improvement is usually gradual and it can take 3 months or longer to see results. While treatment is usually long term, there may be times when symptoms improve and you can temporarily stop using medications.

The goals of treatment are to:

• Control symptoms.
• Prevent worsening of the condition and complications.
• Improve quality of life.

Your treatment may include:

Medications. Topical agents are usually prescribed first, as long as symptoms are fairly mild. Oral medications are typically only used for moderate or severe cases.

• Topical agents.
• Creams, gels, and ointments that contain antibiotics, antiparasitics, or vasoconstrictors (substances that narrow blood vessels) are used to treat flushing and redness, as well as mild rashes.
• People with eye irritation are treated with lubricating eye drops or ointments that contain antibiotics or immunosuppressant medications.
• Oral medications.
• Antibiotics. These are used for moderate to severe rashes and more serious eye symptoms. The antibiotics that are used are believed to work, at least in part, because they have anti-inflammatory properties as well as antibiotic effects.
• Retinoids. These compounds, which are related to vitamin A, may help some people with severe rosacea.
• Occasionally, drugs approved for other conditions are used to reduce flushing.

Laser and light-based therapies. Lasers and intense pulsed light devices can help shrink blood vessels, making them less noticeable. Doctors may also use laser therapy to remove excess tissue in people who have developed thickened skin.

Surgery. Surgery may be needed when thickened skin needs to be removed. The procedure may involve use of a scalpel or special abrasion instruments.

Rosacea is primarily treated by:

• Dermatologists, who specialize in conditions of the skin, hair, and nails.

Other health care providers who may be involved in your care include:

• Mental health professionals, who can help people cope with difficulties in their social and professional lives that may result from their medical conditions. 
• Ophthalmologists, who specialize in treating disorders and diseases of the eye. 

There are ways that you can take an active part in controlling your rosacea. Besides going to your doctor regularly, there are a number of things you can do to relieve discomfort and prevent flare-ups. The following tips can help make living with the condition easier.

Learn what your triggers are. Many people with rosacea find that certain factors, or triggers, make their symptoms worse. Keeping a written record of what seems to make your rosacea worse may help you identify your triggers.

Triggers vary among individuals, but some of the common ones are:

• Exposure to sunlight.
• Emotional stress.
• Hot or cold weather.
• Strong winds.
• Strenuous exercise.
• Alcohol consumption.
• Hot baths.
• Spicy foods.
• Foods or beverages hot in temperature.

Treat your skin gently. Wash your face with cleansers made for sensitive skin, and moisturize regularly. Avoid exfoliants and alcohol-based products.

Protect your skin from the sun. Use an SPF 30 or higher sunscreen formulated for the face on a daily basis. This will protect your skin from broad-spectrum UV and visible light.

Pay attention to your eyes. Be alert for eye redness or burning. Many people with rosacea develop eye irritation, and if it is not treated, it can lead to problems with your eyesight. If you develop eye irritation, see your doctor right away. He or she may recommend scrubbing your eyelids gently with watered-down baby shampoo or an eyelid cleanser, and then applying a warm (but not hot) compress a few times a day.

Get support. Having a long-term condition like rosacea can be challenging, and can raise the risk of anxiety and depression. Many people with rosacea, especially those with more noticeable skin changes, have reported that it inhibits their social lives. Visit a mental health professional or join an in-person or online support group if emotional problems arise.

We all get red in the face sometimes. It might be from blushing, an allergic reaction, or a sunburn. But if face redness lasts for a long time it could be a skin condition called rosacea (pronounced ro-ZAY-shah). Rosacea often starts as redness or flushing on the cheeks, nose, chin, and forehead.

“There is extraordinary redness in the central part of the face,” says Dr. Richard Gallo, professor and skin expert at the University of California, San Diego. “And then over time, many people with rosacea also develop many small blood vessels on the skin of their face.”

Rosacea can also cause red bumps that look like acne. It most often affects women ages 30 to 60. It’s more common among people who are fair-skinned. And it can be uncomfortable.

“Sometimes the skin feels like it’s hot, it can be burning, and sometimes a little bit itchy,” Gallo says.

In an extreme form, skin can thicken and enlarge the nose. This is much more common in men. Sometimes, rosacea can also affect the eyes. They can look bloodshot and feel dry or itchy. It can cause blurred vision and other vision problems.

Rosacea often comes and goes in cycles. Symptoms can flare up and then diminish, only to return later. Rosacea can be quite disfiguring and cause a lot of psychological distress, Gallo says.

It’s important to pay attention to the things that trigger rosacea. “Rosacea is a very individual disease,” Gallo says. Sunlight, stress, alcohol, spicy foods, and hormonal fluctuations are common triggers.

The causes of rosacea aren’t completely understood, but genes probably play a role. Studies show that rosacea involves issues with the body’s immune system.

“We’ve learned that rosacea is a problem with how the skin senses the outside environment,” says Gallo. “The immune sensing system in their skin is too sensitive. So many different things can trigger it, like eating spicy foods, microbes, or too much sunlight. And that causes the skin to become red and have flushing reactions.”

Gallo and his team are studying the role of molecules called antimicrobial peptides. These work like natural antibiotics in the skin, killing some bacteria. But they also trigger the body’s immune system, Gallo explains. He and his team discovered that some people with rosacea make too many antimicrobial peptides. This discovery could eventually lead to new treatments.

Right now, there are several medications doctors can prescribe to treat rosacea. Some work by affecting the microbes that live on the skin. Others help reduce redness by constricting blood vessels in the face.

Laser treatments can also help with redness and improve skin’s appearance. They destroy extra blood vessels in the face. However, laser treatment only addresses the symptoms of rosacea and not the causes.

If you have symptoms of rosacea, a doctor who treats skin disorders, called a dermatologist, can help.

Living With Rosacea

• To figure out triggers, keep a written record of what seems to make your rosacea worse.
• Use sunscreen (SPF 15 or higher) every day.
• Use a moisturizer on your face if it helps. But avoid products that irritate your skin.
• Consider trying a green-tinted makeup to make your skin look less red.
• Talk with your health care provider if you feel sad or have other signs of depression. This may happen to some people with rosacea because of how they feel about their skin.

Investigators at institutions across the country, many supported by the National Institutes of Health, are working to understand what causes rosacea, and to develop new treatment strategies.

Below are examples of some of the research that is being conducted.

• Higher levels of antimicrobial peptides, a normal part of the immune system, appear in skin of some people with rosacea. These peptides help combat infections, but when their levels are too high they may lead to the inflammation and redness that are typical of the condition. Scientists are investigating the role they play in the condition.
• Some studies have linked rosacea with other diseases, such as cardiovascular disease, autoimmune diseases, metabolic disorders, and Parkinson’s disease. Research is underway to confirm these links and to explore the possibility of shared aspects of disease mechanisms between them.
• Some researchers are testing the possibility that rosacea happens because blood vessels expand too easily, resulting in the flushing, persistent redness and visible blood vessels that characterize the condition.
• Mites called Demodex folliculorem live harmlessly on human skin, and some studies have shown that people with rosacea have larger numbers of them or may be more sensitive to them. Scientists are exploring the role they play in the condition.
• Physicians use a wide array of medications to treat the skin and eye symptoms of rosacea. Investigators are carrying out clinical trials to compare the efficacy of various combinations of oral and topical medications on alleviating symptoms.
• Perturbations of the human microbiome, the collection of all the microbes that live in and on the human body, have been linked to a number of diseases and conditions. Early evidence points to differences in the types of microbes that populate the skin of people with rosacea, suggesting the possibility that the microbiome may play a part in the condition.
• Investigators are searching for gene variants that raise the risk of rosacea by comparing the DNA of people with the condition to healthy controls.