Overview of Acne

Acne is a common skin condition that happens when hair follicles under the skin become clogged. Sebum—oil that helps keep skin from drying out—and dead skin cells plug the pores, which leads to outbreaks of lesions, commonly called pimples or zits. Most often, the outbreaks occur on the face but can also appear on the back, chest, and shoulders.

Acne is an inflammatory disorder of the skin, which has sebaceous (oil) glands that connects to the hair follicle, which contains a fine hair. In healthy skin, the sebaceous glands make sebum that empties onto the skin surface through the pore, which is an opening in the follicle. Keratinocytes, a type of skin cell, line the follicle.  Normally as the body sheds skin cells, the keratinocytes rise to the surface of the skin. When someone has acne, the hair, sebum, and keratinocytes stick together inside the pore. This prevents the keratinocytes from shedding and keeps the sebum from reaching the surface of the skin. The mixture of oil and cells allows bacteria that normally live on the skin to grow in the plugged follicles and cause inflammation—swelling, redness, heat, and pain. When the wall of the plugged follicle breaks down, it spills the bacteria, skin cells, and sebum into nearby skin, creating lesions or pimples.

For most people, acne tends to go away by the time they reach their thirties, but some people in their forties and fifties continue to have this skin problem.

Causes of Acne

Doctors and researchers believe that one or more of the following can lead to the development of acne:

• Excess or high production of oil in the pore.
• Buildup of dead skin cells in the pore.
• Growth of bacteria in the pore.

The following factors may increase your risk for developing acne:

• Hormones. An increase in androgens, which are male sex hormones, may lead to acne. These increase in both boys and girls normally during puberty and cause the sebaceous glands to enlarge and make more sebum. Hormonal changes related to pregnancy can also cause acne. 
• Family history. Researchers believe that you may be more likely to get acne if your parents had acne.
• Medications. Certain medications, such as medications that contain hormones, corticosteroids, and lithium, can cause acne.
• Age. People of all ages can get acne, but it is more common in teens.

 The following do not cause acne, but may make it worse.

• Diet. Some studies show that eating certain foods may make acne worse. Researchers are continuing to study the role of diet as a cause of acne.
• Stress.
• Pressure from sports helmets, tight clothes, or backpacks.
• Environmental irritants, such as pollution and high humidity.
• Squeezing or picking at blemishes.
• Scrubbing your skin too hard.

Diagnosis of Acne

To diagnose acne, health care providers may:

• Ask about your family history, and, for girls or women, ask about their menstrual cycles.
• Ask you about your symptoms, including how long you have had acne.
• Ask what medications you are currently taking or recently stopped.
• Examine your skin to help determine the type of acne lesion.
• Order lab work to determine if another condition or medical disorder is causing the acne.

Treatment for Acne

The goals of treatment are to help heal existing lesions, stop new lesions from forming, and prevent scarring. Medications can help stop some of the causes of acne from developing, such as abnormal clumping of cells in the follicles, high sebum levels, bacteria, and inflammation. Your doctor may recommend over-the-counter or prescription medications to take by mouth or apply to the skin.

Topical medications, which you apply to the skin, include:

• Over-the-counter products, such as benzoyl peroxide, which kills bacteria and may decrease the production of sebum.
• Antibiotics, which are usually used with other topical medications.
• Retinoids, which come from vitamin A and can help treat lesions and reduce inflammation. They can also help prevent the formation of acne and help with scarring.
• Salicylic acid, which helps break down blackheads and whiteheads and also helps reduce the shedding of cells lining the hair follicles.
• Sulfur, which helps break down blackheads and whiteheads.

Topical medicines come in many forms, including gels, lotions, creams, soaps, and pads. In some people, topical medicines may cause side effects such as skin irritation, burning, or redness. Talk to your doctor about any side effects that you experience.

For some people, the doctor may prescribe oral medications, such as:

• Antibiotics, which help slow or stop the growth of bacteria and reduce inflammation. Doctors usually prescribe antibiotics for moderate to severe acne, such as severe nodular acne (also called cystic acne).
• Isotretinoin, an oral retinoid, which works through the blood stream to help treat acne and open up the pore.  This allows other medications, such as antibiotics, to enter the follicles and treat the acne. Similar to topical retinoids, taking the medication by mouth can also help prevent the formation of acne and help with scarring.
• Hormone therapy, used primarily in women, which helps stop the effects of androgens on the sebaceous gland.
• Corticosteroids, which help lower inflammation in severe acne, including severe nodular acne.

Some people who have severe acne or acne scarring that does not respond to topical or oral medications may need additional treatments, such as:

• Laser and other light therapies. However, researchers are still studying the best types of light and the amount needed to treat acne.
• Injecting corticosteroids directly into affected areas of your skin.
• Superficial chemical peels that a doctor recommends and applies to the area.
• Filling acne scars with a substance to improve their appearance.
• Treating acne scars with tiny needles to help induce healing.
• Surgical procedures to help treat and repair scarring.

In addition to experiencing significant scarring, people of color can develop skin discoloration after acne heals. Your doctor can suggest a treatment approach that can fade existing dark spots. Using sunscreen when outdoors is especially important to help treat and prevent dark spots.

Who Treats Acne?

The following health care providers may diagnose and treat acne:

• Dermatologists, who specialize in conditions of the skin, hair, and nails.
• Primary health care providers, including family doctors, internists, or pediatricians.

Living With Acne

If you have acne, the following recommendations may help you in taking care of your skin.

• Clean your skin gently. Use a mild cleanser in the morning, in the evening, and after heavy exercise. Try to avoid using strong soaps, astringents, or rough scrub pads. Rinse your skin with lukewarm water.
• Shampoo your hair regularly, especially if you have oily hair.
• Avoid rubbing and touching skin lesions. Squeezing or picking blemishes can cause scars or dark blotches to develop.
• Shave carefully. Make sure the blade is sharp, and soften the hair with soap and water before applying shaving cream. Shave gently and only when necessary to reduce the risk of nicking blemishes.
• Use sunscreen, and avoid sunburn and suntan. Many of the medicines used to treat acne can make you more prone to sunburn.
• Choose cosmetics carefully. All cosmetics and hair care products should be oil free. Choose products labeled noncomedogenic, which means they do not clog pores. In some people, however, even these products may make acne worse.

Acne can cause embarrassment or make you feel shy or anxious. If you have any of these feelings, talk to your doctor.

Overview of Alopecia Areata (eczema)

Alopecia areata is a disease that happens when the immune system attacks hair follicles and causes hair loss. Hair follicles are the structures in skin that form hair. While hair can be lost from any part of the body, alopecia areata usually affects the head and face. Hair typically falls out in small, round patches about the size of a quarter, but in some cases, hair loss is more extensive. Most people with the disease are healthy and have no other symptoms.

The course of alopecia areata varies from person to person. Some have bouts of hair loss throughout their lives, while others only have one episode. Recovery is unpredictable too, with hair regrowing fully in some people but not others.

There is no cure for alopecia areata, but there are treatments that help hair grow back more quickly. There are also resources to help people cope with hair loss.

Symptoms of Alopecia Areata

Alopecia areata primarily affects hair, but in some cases, there are nail changes as well. People with the disease are usually healthy and have no other symptoms.

Hair Changes

Alopecia areata typically begins with sudden loss of round or oval patches of hair on the scalp, but any part of the body may be affected, such as the beard area in men, or the eyebrows or eyelashes. Around the edges of the patch, there are often short broken hairs or “exclamation point” hairs that are narrower at their base than their tip. There is usually no sign of a rash, redness, or scarring on the bare patches. Some people say they feel tingling, burning, or itching on patches of skin right before the hair falls out.

When a bare patch develops, it is hard to predict what will happen next. The possibilities include:

• The hair regrows within a few months. It may look white or gray at first but may regain its natural color over time.
• Additional bare patches develop. Sometimes hair regrows in the first patch while new bare patches are forming.
• Small patches join to form larger ones. In rare cases, hair is eventually lost from the entire scalp, called alopecia totalis.
• There is a progression to complete loss of body hair, a type of the disease called alopecia universalis. This is rare.

In most cases, the hair regrows, but there may be subsequent episodes of hair loss.

The hair tends to regrow on its own more fully in people with:

• Less extensive hair loss.
• Later age of onset.
• No nail changes.
• No family history of the disease.

Nail Changes

Nail changes such as ridges and pits occur in some people, especially those who have more extensive hair loss.

Causes of Alopecia Areata

In alopecia areata, the immune system mistakenly attacks hair follicles, causing inflammation. Researchers do not fully understand what causes the immune attack on hair follicles, but they believe that both genetic and environmental (non-genetic) factors play a role.

Overview of Atopic Dermatitis

Atopic dermatitis, often referred to as eczema, is a chronic (long-lasting) disease that causes inflammation, redness, and irritation of the skin. It is a common condition that usually begins in childhood; however, anyone can get the disease at any age. Atopic dermatitis is not contagious, so it cannot be spread from person to person.

Atopic dermatitis causes the skin to become extremely itchy. Scratching leads to further redness, swelling, cracking, “weeping” clear fluid, crusting, and scaling. In most cases, there are periods of time when the disease is worse, called flares, followed by periods when the skin improves or clears up entirely, called remissions.

Researchers do not know what causes atopic dermatitis, but they do know that genes, the immune system, and the environment play a role in the disease. Depending on the severity and location of the symptoms, living with atopic dermatitis can be hard. Treatment can help control symptoms. For many people, atopic dermatitis improves by adulthood, but for some, it can be a lifelong illness.

Symptoms of Atopic Dermatitis

The most common symptom of atopic dermatitis is itching, which can be severe. Other common symptoms include:

• Red, dry patches of skin.
• Rashes that that may ooze, weep clear fluid, or bleed when scratched.
• Thickening and hardening of the skin.

The symptoms can flare in multiple areas of the body at the same time and can appear in the same locations and in new locations. The appearance and location of the rash vary depending on age; however, the rash can appear anywhere on the body. Patients with darker skin tones often experience darkening or lightening of the skin in areas of skin inflammation.

Infants

During infancy and up to 2 years of age, it is most common for a red rash, which may ooze when scratched, to appear on the:

• Face.
• Scalp.
• Area of skin around joints that touch when the joint bends.

Some parents worry that the infant has atopic dermatitis in the diaper area; however, the condition rarely appears in this area.

Childhood

During childhood, usually 2 years of age to puberty, it is most common for a red thickened rash, which may ooze or bleed when scratched, to appear on the:

• Elbows and knees, usually in the bend.
• Neck.
• Ankles.

Teens and Adults

During the teenage and adult years, it is most common for a red to dark brown scaly rash, which may bleed and crust when scratched, to appear on the:

• Hands.
• Neck.
• Elbows and knees, usually in the bend.
• Skin around the eyes.
• Ankles and feet.

Other common skin features of atopic dermatitis include:

• An extra fold of skin under the eye, which is known as a Dennie-Morgan fold.
• Darkening of the skin beneath the eyes.
• Extra skin creases on the palms of the hands and soles of the feet.

In addition, people with atopic dermatitis often have other conditions, such as:

• Asthma and allergies, including food allergies.
• Other skin diseases, such as ichthyosis, which causes dry, thickened skin.
• Depression or anxiety.
• Sleep loss.

Researchers continue to study why having atopic dermatitis as a child can lead to the development of asthma and hay fever later in life.

 Complications of atopic dermatitis can happen. They include:

• Bacterial skin infections that can worsen from scratching. These are common and may make the disease harder to control.
• Viral skin infections like warts or cold sores.
• Sleep loss that can lead to behavior issues in children.
• Hand eczema (hand dermatitis).
• Eye problems such as:
  • Conjunctivitis (pink eye), which causes swelling and redness in the inside of your eyelid and the white part of your eye.
  • Blepharitis, which causes general inflammation and redness of your eyelid.

Causes of Atopic Dermatitis

No one knows what causes atopic dermatitis; however, researchers know that changes in the protective layer of the skin can cause it to lose moisture. This can cause the skin to become dry, leading to damage and inflammation in the skin. New research suggests that inflammation directly triggers sensations of itch which in turn cause the patient to scratch. This leads to further damage of the skin as well as increased risk for infection with bacteria.

Researchers do know that the following may contribute to the changes in the skin barrier, which helps control moisture:

• Changes (mutations) in genes.
• Problems with the immune system.
• Exposure to certain things in the environment.

Genetics

The chance of developing atopic dermatitis is higher if there is a family history of the disease, which suggests that genetics may play a role in the cause. Recently, researchers found changes to genes that control a specific protein and help our bodies maintain a healthy layer of skin. Without the normal levels of this protein, the skin barrier changes, allowing moisture to escape and exposing the skin immune system to the environment, leading to atopic dermatitis.

Researchers continue to study genes to better understand how different mutations cause atopic dermatitis.

Immune System

The immune system normally helps to fight off illness, bacteria, and viruses in your body. Sometimes, the immune system becomes confused and overactive, which can create inflammation in the skin, leading to atopic dermatitis. 

Environment

Environmental factors may trigger the immune system to change the protective barrier of the skin allowing more moisture to escape, which can lead to the atopic dermatitis. These factors may include:

• Exposure to tobacco smoke.
• Certain types of air pollutants.
• Fragrances and other compounds found in skin products and soaps.
• Excessively dry skin.

Overview of Epidermolysis Bullosa

Epidermolysis bullosa is a group of rare diseases that cause the skin to be fragile and to blister easily. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters and sores may also develop inside the body, such as in the mouth, esophagus, stomach, intestines, upper airway, bladder, and genitals.

Most people who have epidermolysis bullosa inherit a mutated (changed) gene from their parents. The gene mutation changes how the body makes proteins that help the skin bind together and remain strong. If you have epidermolysis bullosa, one of these proteins does not form correctly. The layers of the skin do not bind normally, making it easy for the skin to tear and blister.

The primary symptom of epidermolysis bullosa is fragile skin that leads to blistering and tearing. The symptoms of the disease usually begin at birth or during infancy and range from mild to severe.

There is no cure for the disease; however, scientists continue to research possible treatments and cures for epidermolysis bullosa. Your doctor treats the symptoms, which may include managing pain, treating wounds caused by the blisters and tears, and helping you cope with the disease.

Symptoms of Epidermolysis Bullosa

The symptoms of epidermolysis bullosa vary depending on the type you have. Everyone with the disease has fragile skin that blisters and tears easily. Other symptoms, by type and subtype, include the following.

• Epidermolysis bullosa simplex is the most common form of the disease. People who have a mild subtype develop blisters on the palms of the hands and soles of the feet. In other more severe subtypes, the blisters occur over the entire body. Depending on the subtype of the disease, other symptoms may include:
  • Thickened skin on the palms of the hands and soles of the feet.
  • Rough, thickened, or absent fingernails or toenails.
  • Blisters inside the mouth.
  • Changes in the pigmentation (color) of the skin.
• Junctional epidermolysis bullosa is usually severe. People who have the most serious form can have open sores on the face, trunk, and legs, which may become infected or cause severe dehydration due to fluid loss. Blisters also can develop in the mouth, esophagus, upper airway, stomach, intestines, urinary system, and genitals. Other symptoms and problems related to the disease may include:
  • Rough and thickened or absent fingernails and toenails.
  • Blisters on the scalp or loss of hair with scarring.
  • Malnutrition resulting from poor intake of calories and vitamins due to blistering in the mouth and gastrointestinal tract. 
  • Anemia.
  • Slow overall growth.
  • Poorly formed tooth enamel.
• Dystrophic epidermolysis bullosa has slightly different symptoms, depending upon whether the disease is dominant or recessive; however, most people have the recessive subtype.
  • Recessive subtype: Symptoms tend to be moderate to severe and may include:
    • Blisters usually appear over large areas of the body; in some milder cases of the disease, blisters may only appear on feet, elbows, and knees.
    • Loss of nails.
    • Skin scarring, which may cause the skin to be thick or thin.
    • Milia, which are small white bumps on the skin.
    • Itching.
    • Anemia.
    • Slow overall growth.

• • Dominant subtype: Symptoms may include:
    • Blisters only on the hands, feet, elbows, and knees.
    • Change in shape of nails or nail loss.
    • Milia.
    • Blisters inside the mouth.
• Kindler syndrome does not have any subtypes. The blisters usually appear on the hands and feet and, in severe cases, spread to other areas of the body, including the esophagus and bladder. Other symptoms include thin, wrinkled skin; scarring; milia; and sensitivity of the skin to sun damage.

Causes of Epidermolysis Bullosa

Mutations (changes) to genes that you inherit from your parents cause most forms of epidermolysis bullosa. Genes carry information that determines which features are passed to you from your parents. We have two copies of most of our genes—one from each parent. People with the disease have one or more genes that carry the incorrect instructions to make certain proteins in the skin.

There are two types of inheritance patterns:

• Dominant, which means you inherit one normal copy and one copy of the gene that causes epidermolysis bullosa. The abnormal copy of the gene is stronger or “dominant” over the normal copy of the gene, causing the disease. A person with a dominant mutation has a 50% chance (1 in 2) of passing on the disorder to each of his or her children.
• Recessive, which means that your parents do not have the disease, but both parents have an abnormal gene that causes epidermolysis bullosa. When both parents carry the recessive genes, there is a 25% chance (1 out of 4) per pregnancy of having a child with the disease. There is a 50% chance (2 out of 4) per pregnancy of having a child who inherits one abnormal recessive gene, making them a carrier. 

Researchers know that epidermolysis bullosa acquisita is an autoimmune disease, but they do not know what causes the body to attack the collagen in a person’s skin. Sometimes, people with autoimmune inflammatory bowel disease also develop epidermolysis bullosa acquisita. Rarely, medications cause the disease.

Diagnosis of Epidermolysis Bullosa

Doctors usually diagnose epidermolysis bullosa by:

• Asking about family and medical history, because most types of epidermolysis bullosa are inherited.  
• Completing a physical exam and closely examining the skin, which can help doctors identify where the skin is separating to form blisters.
• Performing a skin biopsy and reviewing the tissue sample using special microscopic techniques, which helps doctors identify which layers of the skin are affected and determine the type of epidermolysis bullosa you have.
• Ordering genetic testing to identify specifically which gene mutations you may have. This helps doctors diagnose the specific type and subtype of the disease. People who have genetic testing should see a specialist or genetic counselor to help them understand the test results.  

Treatment of Epidermolysis Bullosa

There is no cure for epidermolysis bullosa. The goals of treatment are to prevent and control symptoms by:

• Managing pain and itch.
• Protecting skin and caring for blisters and wounds.
• Treating and preventing infection.
• Maintaining or restoring mobility.
• Maintaining good nutrition.

A topical gene therapy was recently approved for the treatment of wounds in patients ages 6 and older with dystrophic epidermolysis bullosa.

Managing Pain and Itch

Your doctor may recommend a pain medication to help manage pain due to blisters and open wounds on the skin or in other areas of the body.

Some types of epidermolysis bullosa cause itching. To help prevent scratching, which can cause fragile skin to tear, your doctor may prescribe medications to help control itch.

Protecting Skin and Caring for Blisters and Wounds

Skin care is an important part of treating epidermolysis bullosa. Because the blisters can be large, it is important to care for the blisters and wounds to help prevent loss of body fluid from the skin and prevent infection of any wounds.

Changing bandages is an important step in protecting the skin and caring for blisters and wounds. Your health care team will give you directions on changing the bandages. When possible, use non-adhesive bandages. Sometimes, bandages still stick to the skin. If this happens, your doctor may recommend soaking the area in warm water to help loosen the bandages. 

Treating and Preventing Infection

Some wounds and blisters can become infected. To treat infection, your doctor may prescribe oral or topical antibiotics. Wounds that are not healing may require medicated coverings or bandages.

You can help lower the chance of developing an infection by staying as healthy as possible by:

• Washing your hands before providing skin care or changing dressings.
• Cleaning your blisters and wounds as recommended by your doctor.
• Applying topical antibiotic creams as recommended by your doctor.
• Staying healthy by eating a nutritious diet and following your doctor’s recommendations.

Even if you take precautions, an infection may still develop. If you see any signs of infection, including increased redness, increased pain in a skin lesion, red streaks coming from the wound or blister, pus, or fevers, contact your doctor right away.

Maintaining and Restoring Mobility

For some people, scarring can create contractures (abnormal tightening and shortening of muscles, tendons, or ligaments). This may happen in the hands and feet and limit your ability to move or use those muscles. In addition, pain due to blisters and wounds may limit your ability to walk or participate in activities. A physical or occupational therapist can help improve, restore, or maintain your ability to move or recommend adaptations to help you. 

Maintaining Good Nutrition

Some people with epidermolysis bullosa may have blisters in the mouth, esophagus, and intestines, making it difficult to chew, swallow, and digest foods and drinks. Your health care provider may refer you to a dietician to help identify recipes and foods that are nutritious and easy to consume. Some options may include:

• Soft foods that are easy to chew and swallow.
• Foods that are warm or cool; you should avoid hot foods and drinks.
• Foods that help prevent constipation or diarrhea.

Additional Treatments

Some people may need additional treatments to treat and correct problems from epidermolysis bullosa.

• If you develop anemia, your doctor may recommend specific treatments to manage the complication.
• If scarring causes narrowing in the body, such as the esophagus or urinary tract, surgery can widen and open up the passageways. 
• People who are not getting proper nutrition may need surgery to insert a tube that provides a direct access for food to go directly into the stomach.
• Some scarring can cause fingers or toes to fuse together. If this happens, surgery may be needed to release them.

Who Treats Epidermolysis Bullosa?

You may see one of the following specialists:

• Dermatologists, who specialize in conditions of the skin, hair, and nails.
• Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
• Nurse educators, who specialize in helping people understand their overall condition and set up their treatment plans.
• Occupational therapists, who teach how to perform activities of daily living safely.
• Pediatricians, who diagnose and treat children.
• Physical therapists, who teach ways to build muscle strength while keeping the skin protected.
• Primary care physicians, who diagnose and treat adults.
• Registered dietitians, who teach about nutrition and meal planning. 

Living With Epidermolysis Bullosa

Living with epidermolysis bullosa can be hard; however, taking steps to care for your skin to help prevent blisters from forming and getting help to cope can help.

To minimize friction, and to stop tears and blisters from forming, your health care team may recommend the following:

• Keep your skin cool. Never apply anything hot to the skin, and avoid using water warmer than your body temperature when bathing.
• Wear loose-fitting, soft clothing to avoid rubbing against the skin or causing friction.
• Avoid overheating by keeping rooms at a cool, even temperature.
• Apply lotions, creams, or ointments to the skin to reduce friction and keep the skin moist.
• Use sheepskin on car seats and other hard surfaces.
• Wear mittens at bedtime to help prevent scratching while asleep.

Managing and caring for epidermolysis bullosa may be hard. You may find it helpful to find a community or online support group. Some people may find it helpful to speak to a mental health professional about coping with the disease. 

Overview of Hidradenitis Suppurativa

Hidradenitis suppurativa, also known as HS and less commonly as acne inversa, is a chronic, noncontagious, inflammatory condition characterized by painful bumps or boils and tunnels in and under the skin. Pus-filled bumps on the skin or hard bumps beneath the skin can progress to painful, inflamed areas (also called “lesions”) with chronic drainage.

HS starts in the hair follicle in the skin. In most cases, the cause of the disease is unknown, although a combination of genetic, hormonal, and environmental factors likely play a role in its development. The disease can significantly affect a person’s quality of life.

Symptoms of Hidradenitis Suppurativa

In people with hidradenitis suppurativa, pus-filled bumps on the skin or hard bumps beneath the skin can progress to painful, inflamed areas (also called “lesions”) with chronic drainage. In severe cases, the lesions can become large and connected by narrow tunnel-like structures beneath the skin. In some cases, HS leaves open wounds that won’t heal. HS can cause significant scarring.

HS tends to occur where two areas of skin may touch or rub together, most commonly the armpits and the groin. Lesions may also form around the anus, on the buttocks or upper thighs, or under the breasts. Other less frequently involved areas may include behind the ear, the nape of the neck, the areola of the breast, the scalp, and the area around the navel.

Some people with relatively mild disease may have just one affected area, while others have more extensive disease with lesions in multiple sites. Skin problems from HS are usually symmetrical, meaning if an area on one side of the body is affected, the corresponding area on the opposite side is often affected as well.

Causes of Hidradenitis Suppurativa

Hidradenitis suppurativa begins in the hair follicle in the skin. The cause of the disease is unknown, although a combination of genetic, hormonal, and environmental factors likely play a role in its development.

An estimated one-third of people with HS have a family member with a history of the disease. The disease seems to have an autosomal dominant pattern of inheritance in some affected families. This means that only one copy of an altered gene in each cell is needed to cause the disorder. A parent who carries the altered gene has a 50 percent chance of having a child with the mutation. Researchers are working to identify which genes are involved.

Overview of Ichthyosis

Ichthyosis refers to a group of skin disorders that lead to dry, itchy skin that appears scaly, rough, and red. The symptoms can range from mild to severe. Ichthyosis can affect only the skin, but some forms of the disease can affect internal organs as well.

Most people have a genetic form of ichthyosis that results from a changed gene, often inherited from their parents. However, some people develop a form of acquired (nongenetic) ichthyosis from another medical disorder or certain medications. While there is currently no cure for ichthyosis, research is ongoing and treatments are available to help manage the symptoms.

The outlook for people with ichthyosis varies depending on the type of the disease and how severe it is. Most people with ichthyosis need treatment for life to help make the disease more manageable.

Symptoms of Ichthyosis

The symptoms of ichthyosis can range from mild to severe. The most common symptoms include:

• Dry skin.
• Itching.
• Redness of the skin.
• Cracking of the skin.
• Scales on the skin that are white, gray, or brown and have the following appearance:
  • Small and flaky.
  • Large, dark, plate-like scales.
  • Hard, armor-like scales.

Depending on the type of ichthyosis, other symptoms may include:

• Blisters that can break, leading to wounds.
• Hair loss or fragile hair.
• Dry eyes and difficulty closing eyelids. Inability to perspire (sweat) because skin scales clog the sweat glands.
• Difficulty hearing.
• Thickening of the skin on the palms of the hands and soles of the feet.
• Tightening of the skin.
• Difficulty flexing some joints.

Cause of Ichthyosis

Gene mutations (changes) cause all of the inherited types of ichthyosis. Many gene mutations have been identified and the inheritance pattern depends on the type of ichthyosis. People continually grow new skin and shed old skin throughout their lives. For people with ichthyosis, the mutated genes change the normal skin growth and shedding cycle, causing skin cells to do one of the following:

• Grow faster than they are shed.
• Grow at a normal rate, but shed at a slow rate.
• Shed faster than they grow.

There are different types of inheritance patterns of ichthyosis, including:

• Dominant, which means you inherit one normal copy and one mutated copy of the gene that causes ichthyosis. The abnormal copy of the gene is stronger or “dominant” over the normal copy of the gene, causing the disease. A person with a dominant mutation has a 50% chance (1 in 2) of passing the disorder to each of his or her children.
• Recessive, which means that your parents do not have signs of ichthyosis, but both parents carry only one abnormal gene, which is not enough to cause the disease. When both parents carry one recessive gene, there is a 25% chance (1 out of 4) per pregnancy of having a child who inherits both of these mutated genes and develops the disorder. There is a 50% chance (2 out of 4) per pregnancy of having a child who inherits only one mutated recessive gene, making them a carrier of the disease gene without noticeable signs. If one parent has a recessive form of ichthyosis with two mutated genes, all their children will carry one abnormal gene, but will not usually have noticeable signs of ichthyosis.
• X-linked, which means the gene mutations are located on the X sex chromosome. Each person has two sex chromosomes: Females generally have two X chromosomes (XX), and males generally have one X chromosome and one Y chromosome (XY). The mother always passes on an X chromosome, but the father can pass on either an X or Y chromosome. The inheritance pattern for X-linked ichthyosis is usually recessive; this means that males, who only have one X chromosome to begin with, pass on the mutated X chromosome. Because of this pattern, females are affected more often, and typically they have one mutated and one normal X chromosome.
• Spontaneous, which means the gene mutation occurs randomly without a family history of the disorder. This is most common in dominant and X-linked ichthyoses.

Diagnosis of Ichthyosis

Health care providers usually diagnose ichthyosis by:

• Asking about your family and medical history, including any skin disorders.  
• Completing a physical exam, which includes a close examination of the skin, hair, and nails.  
• Sometimes performing a skin biopsy to examine the tissue under a microscope. Sometimes doctors use a biopsy to help diagnose the condition or determine if the symptoms are from another disease or skin condition.

In addition, your health care provider may be able to diagnose ichthyosis with a genetic test that detects the mutated gene usually from a blood sample or a swab from the mouth. A genetic counselor or specialist can help you understand the test results.

Treatment of Ichthyosis

There is currently no cure for ichthyosis. The goals of treatment include reducing the redness of the skin, thickness of the scales, and itching. Treatments can include:

• Hydrating the skin with creams, lotions, or ointments to help trap moisture in the skin and relieve dryness and scaling. This works best if the topical agents are applied when the skin is moist.
• Taking long baths to soften and release scales.
• Using an oral or topical retinoid, a type of medication that can decrease scaling.
• Using prescription creams or ointments that may contain retinoids or other medications.

Depending on the type and severity of the disease, doctors may recommend additional treatment with “keratolytic” topical agents, which can help to loosen scales. However, these can be irritating for some people and have potential side effects if used in large amounts. Talk to your doctor before using any treatment option.

Who Treats Ichthyosis?

You may see one or more of the following specialists:

• Dermatologists, who specialize in conditions affecting the skin, hair, and nails.
• Allergists/immunologists, who specialize in treating allergies and diseases and health issues brought on by problems with the immune system.
• Audiologists, who diagnoses and treats hearing and balance problems.
• Clinical geneticists, who diagnose children and adults with genetic disorders. 
• Ear, nose, and throat doctors, who help to manage hearing and ear problems.
• Genetic counselors, who counsel and educate people on their genetic health.
• Nurse educators, who specialize in helping people to understand their overall condition and to set up their treatment plans.
• Ophthalmologists, who treat disorders and diseases of the eye.
• Neurologists, who treat disorders of the brain, spinal cord, and nerves.
• Pediatricians, who diagnose and treat children.
• Primary care physicians, who diagnose and treat adults.

Living With Ichthyosis

Depending on the type and severity of the disorder, you may find living with ichthyosis to be challenging. However, the following self-care tips may help you manage the disease, improve your health, and enjoy a better quality of life:

• Take baths to add more moisture to the skin and help remove the scales before applying topical agents.
• Keep your environment cool. This can help some people with ichthyosis who cannot tolerate heat, have reduced sweating, or have a lot of itching.
• Heat and air conditioning can produce very dry air. Using a humidifier can help keep moisture in the air and keep the skin from drying out as much.
• Wear loose-fitting clothes made from materials such as cotton, which may be less irritating to the skin.
• Use laundry detergents designed for sensitive skin that do not contain a lot of dyes or perfumes.
• Find a supportive community or join an online support group focused on ichthyosis. Some people may find it helpful to speak to a mental health professional about coping with the disorder. 

Overview of Pachyonychia Congenita

Pachyonychia congenita (PC) is a very rare genetic disorder that affects the skin and nails. The symptoms usually begin at birth or early in life, and the condition affects people of both sexes and all racial and ethnic groups.

PC is caused by mutations affecting keratins, proteins that provide structural support to cells, and it is classified into five types based on which keratin gene harbors the mutation. Symptoms vary from person to person and depend on the type, but thickened nails and calluses on the soles of the feet occur in almost all cases. The most debilitating symptom is painful calluses on the soles that make walking difficult. Some patients rely on a cane, crutches, or a wheelchair to help manage the pain of walking.

There is no specific treatment for PC, but there are ways to manage the symptoms, including the pain.

Symptoms of Pachyonychia Congenita

The symptoms and severity of PC can vary widely, even among people with the same type or in the same family. Most symptoms typically appear within the first months or years of life.

The most common features of PC include:

• Painful calluses and blisters on the soles of the feet. In some cases, the calluses itch. Calluses and blisters may also form on the palms of the hands.
• Thickened nails. Not all nails are affected in every patient with PC, and some people do not have any thickened nails. But the vast majority of patients have some affected nails.
• Cysts of various types.
• Bumps around hairs at friction sites, such as the waist, hips, knees, and elbows. They are most common in children and lessen after the teenage years.
• White film on the tongue and inside the cheeks.

Less common features of PC include:

• Sores at the corners of the mouth.
• Teeth at or before birth.
• White film on the throat, resulting in a hoarse voice.
• Intense pain on first bite (“first bite syndrome”). The pain is near the jaw or ears and lasts 15–25 seconds when beginning to eat or swallow. This is more common in younger children and may cause feeding difficulties for some infants. It typically goes away during the teenage years.

Causes of Pachyonychia Congenita

Pachyonychia congenita is caused by mutations in genes that encode keratins, proteins that are the main structural components of skin, nails, and hair. The mutations prevent keratins from forming the strong network of filaments that normally gives skin cells strength and resilience. As a result, even normal activities like walking can cause cells to break down, ultimately leading to the painful blisters and calluses that are the most debilitating features of the disorder.

Overview of Psoriasis

Psoriasis is a chronic (long-lasting) disease in which the immune system becomes overactive, causing skin cells to multiply too quickly. Patches of skin become scaly and inflamed, most often on the scalp, elbows, or knees, but other parts of the body can be affected as well. Scientists do not fully understand what causes psoriasis, but they know that it involves a mix of genetics and environmental factors.

The symptoms of psoriasis can sometimes go through cycles, flaring for a few weeks or months followed by periods when they subside or go into remission. There are many ways to treat psoriasis, and your treatment plan will depend on the type and severity of disease. Mild psoriasis can often be successfully treated with creams or ointments, while moderate and severe psoriasis may require pills, injections, or light treatments. Managing common triggers, such as stress and skin injuries, can also help keep the symptoms under control.

Having psoriasis carries the risk of getting other serious conditions, including:

• Psoriatic arthritis, a chronic form of arthritis that causes pain, swelling, and stiffness of the joints and places where tendons and ligaments attach to bones (entheses).
• Cardiovascular events, such heart attacks and strokes.
• Mental health problems, such as low self-esteem, anxiety, and depression.
• People with psoriasis may also be more likely to get certain cancers, Crohn’s disease, diabetes, metabolic syndrome, obesity, osteoporosis, uveitis (inflammation of the middle of the eye), liver disease, and kidney disease.

Symptoms of Psoriasis

Symptoms of psoriasis vary from person to person, but some common ones are:

• Patches of thick, red skin with silvery-white scales that itch or burn, typically on the elbows, knees, scalp, trunk, palms, and soles of the feet.
• Dry, cracked skin that itches or bleeds.
• Thick, ridged, pitted nails.
• Poor sleep quality.

Some patients have a related condition called Psoriatic arthritis, which can be characterized by stiff, swollen, or painful joints; neck or back pain; or Achilles heel pain. If you have symptoms of psoriatic arthritis, it is important to see your doctor soon because untreated psoriatic arthritis can lead to irreversible damage.

The symptoms of psoriasis can come and go. You may find that there are times when your symptoms get worse, called flares, followed by times when you feel better.

Causes of Psoriasis

Psoriasis is an immune-mediated disease, which means that your body’s immune system starts overacting and causing problems. If you have psoriasis, immune cells become active and produce molecules that set off the rapid production of skin cells. This is why skin in people with the disease is inflamed and scaly. Scientists do not fully understand what triggers the faulty immune cell activation, but they know that it involves a combination of genetics and environmental factors. Many people with psoriasis have a family history of the disease, and researchers have pinpointed some of the genes that may contribute to its development. Many of them play a role in the function of the immune system.

Some external factors that may increase the chances of developing psoriasis include:

• Infections, especially streptococcal and HIV infections.
• Certain medicines, such as drugs for treating heart disease, malaria, or mental health problems.
• Smoking.
• Obesity.

Overview of Rosacea

Rosacea is a long-term inflammatory skin condition that causes reddened skin and a rash, usually on the nose and cheeks. It may also cause eye problems. The symptoms typically come and go, with many people reporting that certain factors, such as spending time in the sun or experiencing emotional stress, bring them on.

There is no cure for rosacea, but treatment can keep it under control. The choice of treatment will depend on the symptoms, and usually includes a combination of self-help measures and medications.

Symptoms of Rosacea

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.

Causes of Rosacea

Scientists do not know what causes rosacea, but there are a number of theories. They know that inflammation contributes to some of the key symptoms, such as skin redness and rash, but they do not fully understand why inflammation occurs. It may in part be due to the heightened skin sensitivity in people with rosacea, to environmental stressors, such as ultraviolet (UV) light, and TO microbes that inhabit the skin. Both genetic and environmental (nongenetic) factors likely play a role in the development of rosacea.

Overview of Scleroderma

Scleroderma is an autoimmune disease that causes inflammation and fibrosis (thickening) in the skin and other areas of the body. When an immune response tricks tissues into thinking they are injured, it causes inflammation, and the body makes too much collagen, leading to scleroderma. Too much collagen in your skin and other tissues causes areas of tight, hard skin. Scleroderma may involve many systems in your body. 

There are two major types of scleroderma:

• Localized scleroderma only affects the skin and the structures directly under the skin.
• Systemic scleroderma, also called systemic sclerosis, affects many systems in the body. This is the more serious type of scleroderma and can damage your blood vessels and internal organs, such as the heart, lungs, and kidneys. This subset is also divided into two additional categories called “limited” and “diffuse” which represents how much skin involvement there is in the body.

There is no cure for scleroderma. The goal of treatment is to relieve symptoms and stop the progression of the disease. Early diagnosis and ongoing monitoring are important.

What happens in scleroderma?

The cause of scleroderma is unknown. However, researchers think that the immune system overreacts and causes inflammation and injury to the cells that line blood vessels. This triggers connective tissue cells, especially a cell type called fibroblasts, to make too much collagen and other proteins. The fibroblasts live longer than normal, causing a buildup of collagen in the skin and other organs, leading to some of the signs and symptoms of scleroderma. There can also be injuries to blood vessels.

Symptoms of Scleroderma

The symptoms of scleroderma vary from person to person depending on the type of scleroderma you have.

Localized scleroderma typically causes patches of thick, hard skin in one of two patterns.

• Morphea causes patches of skin to thicken into firm, oval-shaped areas. These areas may have a yellow, waxy appearance surrounded by a reddish or bruise-like edge. The patches may stay in one area or spread to other areas of skin. The disease usually becomes inactive after over time, but you may still have darkened patches of skin. Some people also develop fatigue (feeling tired).
• Linear scleroderma causes lines of thickened or different colored skin to run down your arm, leg, and, rarely, on the forehead.

Systemic scleroderma, also known as systemic sclerosis, may come on quickly or gradually and may also cause problems with your internal organs in addition to the skin. Many people with this type of scleroderma have fatigue.

• Limited cutaneous scleroderma comes on gradually and usually affects skin on your fingers, hands, face, lower arms, and legs below the knees. It often causes problems with your blood vessels and esophagus. The limited form has less frequent major internal organ involvement, such as kidney disease or progressive lung disease, but it is generally milder than in the diffuse form. 
• Diffuse cutaneous scleroderma comes on suddenly, usually with skin thickening on your fingers or toes. The skin thickening then spreads to the rest of your body above the elbows and/or knees. This type can damage your internal organs, such as:
  • Anywhere along your digestive system.
  • Your lungs.
  • Your kidneys.
  • Your heart.

Causes of Scleroderma

Researchers do not know the exact cause of scleroderma, but they suspect that several factors may contribute to the disease:

• Genetic makeup. Genes can increase the chance for certain people to develop scleroderma and play a role determining the type of scleroderma they have. You cannot inherit the disease, and it is not passed from parent to child like some genetic diseases. However, first-degree relatives of people with scleroderma are at higher risk of developing scleroderma than the general population.
• Environment. Researchers suspect that exposure to some environmental factors, such as some chemicals, may trigger scleroderma.
• Immune system changes. Abnormal immune or inflammatory activity in your body triggers cell changes that cause the production of too much collagen. In some cases, an immune reaction to developing cacner cells may trigger scleroderma.
• Hormones. Women develop most types of scleroderma more often than men. Researchers suspect that hormonal or immunological differences between women and men might play a part in the disease.

Overview of Vitiligo

Vitiligo is a chronic (long-lasting) autoimmune disorder that causes patches of skin to lose pigment or color. This happens when melanocytes – skin cells that make pigment – are attacked and destroyed, causing the skin to turn a milky-white color.

In vitiligo, the white patches usually appear symmetrically on both sides of your body, such as on both hands or both knees. Sometimes, there can be a rapid loss of color or pigment and even cover a large area.

The segmental subtype of vitiligo is much less common and happens when the white patches are only on one segment or side of your body, such as a leg, one side of the face, or arm. This type of vitiligo often begins at an early age and progresses for 6 to 12 months and then usually stops.

Vitiligo is an autoinmune disease. Normally, the immune system works throughout your body to fight off and defend your body from viruses, bacteria, and infection. In people with autoimmune diseases, the immune cells attack the body’s own healthy tissues by mistake. People with vitiligo may be more likely to develop other autoimmune disorders as well.

A person with vitiligo occasionally may have family members who also have the disease. Although there is no cure for vitiligo, treatments can be very effective at stopping the progression and reversing its effects, which may help skin tone appear more even.

Symptoms of Vitiligo

The main symptom of vitiligo is loss of natural color or pigment, called depigmentation. The depigmented patches can appear anywhere on your body and can affect:

• Skin, which develops milky-white patches, often on the hands, feet, arms, and face. However, the patches can appear anywhere.
• Hair, which can turn white in areas where the skin is losing pigment. This can happen on the scalp, eyebrow, eyelash, beard, and body hair.
• Mucous membranes, such as the inside of your mouth or nose.

People with vitiligo can also develop:

• Low self-esteem or a poor self-image from concerns about appearance, which can affect quality of life.
• Uveitis, a general term that describes inflammation or swelling in the eye.
• Inflammation in the ear.

Causes of Vitiligo

Scientists believe that vitiligo is an autoimmune disease in which the body’s immune system attacks and destroys the melanocytes.  In addition, researchers continue to study how family history and genes may play a role in causing vitiligo. Sometimes an event – such as a sunburn, emotional distress, or exposure to a chemical – can trigger vitiligo or make it worse.