Category: Rare Skin Condtions

Author: Giuseppe Micali, MD, Head, Professor, Department of Dermatology, University of Catania School of Medicine, Italy
Coauthor(s): Vinod K Dhawan, MD, FACP, FRCP(C), Professor, Department of Clinical Medicine, University of California, Los Angeles, David Geffen School of Medicine; Chief, Division of Infectious Diseases, Rancho Los Amigos National Rehabilitation Center, Downey, California.; Maria R Nasca, MD, PhD, Assistant Professor, Department of Dermatology, University of Catania School of Medicine, Italy
Contributor Information and Disclosures

The term “cellulitis” is commonly used to indicate a nonnecrotizing inflammation of the dermis and hypodermis related to acute infection that does not involve the fascia or muscles, and that is characterized by localized pain, swelling, tenderness, erythema, and warmth.

Pathophysiology

Cellulitis usually follows a break in the skin, such as a fissure, cut, laceration, insect bite, or puncture wound. Facial cellulitis of odontogenic origin may also occur. Patients with toe web intertrigo and/or tinea pedis and those with lymphatic obstruction, venous insufficiency, pressure ulcers, and obesity are particularly vulnerable to recurrent episodes of cellulitis. Organisms on the skin and its appendages gain entrance to the dermis and multiply to cause cellulitis.

The vast majority of cases are caused by Streptococcus pyogenes or Staphylococcus aureus. Occasionally, cellulitis may be caused by the emergence of subjacent osteomyelitis. Cellulitis may rarely result from the metastatic seeding of an organism from a distant focus of infection, especially in immunocompromised individuals. This is particularly common in cellulitis due to Streptococcus pneumoniae and. Neisseria meningitidis, Pseudomonas aeruginosa, Brucella species, and Legionella species have also been reported as rare causes of cellulitis resulting from hematogenous spread.

Frequency

United States

Because cellulitis is not a reportable disease, the exact prevalence is uncertain; however, it is a relatively common infection. A 2006 study found an incidence rate of 24.6 cases per 1000 person-years. In a large epidemiological hospital-based study on skin, soft tissue, bone, and joint infections, 37.3% patients were identified as having cellulitis.

International

Cellulitis has been found to account for approximately 3% of emergency medical consultations at one United Kingdom district general hospital.

Mortality/Morbidity

Cellulitis generally is a localized infection. Most patients treated appropriately recover completely. Mortality is rare (5%) but may occur in neglected cases or when cellulitis is due to highly virulent organisms (eg, P aeruginosa). Factors associated with an increased risk of death are the presence of concurrent illness (eg, congestive heart failure, morbid obesity, hypoalbuminemia, renal insufficiency) or complications (eg, shock).

Race

No racial predilection has been noted.

Sex

No predilection for either sex is usually reported, although a higher incidence among males has been reported in some studies.

Age

No age predilection is usually described; however, studies found a higher incidence of cellulitis in general among individuals older than 45 years. Moreover, cellulitis at certain anatomic sites may show a predilection for persons in certain age groups.

• Facial cellulitis is more common in children younger than 3 years.
• Perianal cellulitis is predominantly a disease of children.

Clinical

History

The incubation period is somewhat organism dependent. Postoperative cellulitis at the surgical site due to group A beta-hemolytic streptococci may develop rather rapidly. On the other hand, cellulitis due to staphylococci usually is delayed in onset.

• Patients report local pain and swelling at the site of cellulitis.
• The patient may report a history of trauma to the site. Severe bacterial cellulitis may occur as a postsurgical complication, such as following hip replacement or liposuction, or secondary to lymphatic occlusion following either radical mastectomy or conservative breast surgery; impaired lymphatic drainage and edema are also considered predisposing factors to leg cellulitis following saphenous vein resection for coronary artery bypass. However, cellulitis may follow a trivial injury to the skin (eg, scratch, abrasion, animal bite, intravenous or subcutaneous drug injection, body piercing). Cellulitis has also rarely been reported as a possible postprocedural complication of radiation therapy.
• Fever is common, and chills may be noted, particularly if suppuration has occurred.
• Malaise may be present.

Physical

• Involved sites are red, hot, swollen, and tender.
• Unlike erysipelas, the borders are not elevated or sharply demarcated.
• Lymphangitis, regional lymphadenopathy, or both may be present.
• Malaise, chills, fever, and toxicity may occur.
• In severe cases, patients may develop hypotension.
• Local suppuration may follow if therapy is delayed.
• Overlying skin may develop areas of necrosis.
• The most commonly involved site is the leg.
• Perianal cellulitis due to group A streptococci is usually observed among children with perianal fissures. It is characterized by perianal erythema and pruritus, purulent secretions, painful defecation, and bleeding in the stools.
• Pneumococcal facial cellulitis occurs primarily in young children who are at risk for pneumococcal bacteremia. It may manifest as 2 distinctive clinical syndromes, as follow:
• Extremity involvement in individuals with diabetes mellitus or substance abuse
• Head, neck, and upper torso involvement in individuals with systemic lupus erythematosus, nephrotic syndrome, or hematologic disorders

Causes

• In immunocompetent adults, cellulitis is usually due to S pyogenes and, occasionally, S aureus. Isolation of methicillin-resistant S aureus (MRSA) is steadily increasing, especially among intravenous drug users, HIV infected patients, prisoners, athletes, military trainees, and male homosexuals. Bacterial strains may also show multiple resistance to other standard antibiotic treatments, including erythromycin.
• In children, the most common cause of cellulitis is S aureus. Other causes include S pyogenes (perianal cellulitis), Haemophilus influenzae, and S pneumoniae.
• Recurrent staphylococcal cellulitis may occur in patients with nasal carriage of staphylococci and those with Job Syndrome. S aureus is also the leading cause of soft tissue infections in persons who abuse injection drugs.
• Recurrent cellulitis due to streptococci may be observed in patients with chronic lymphedema (eg, from lymph node dissection, irradiation, Milroy disease, elephantiasis). Streptococcal infections are also common in injection drug users.
• Non–group A streptococci (ie, groups B, C, and G) are commonly implicated in cellulitis in patients with lymphatic obstruction or venectomy for coronary artery bypass graft.
• S pneumoniae is an uncommon cause of cellulitis in adults. Pneumococcal cellulitis may occur from bacteremia. In a review of pneumococcal skin infection in adults, all such patients had an underlying chronic illness or were immunocompromised by drug or alcohol abuse. Pneumococcal facial cellulitis occurs primarily in young children at risk for pneumococcal bacteremia.
• Patients who are immunocompromised with granulocytopenia, such as renal transplant recipients, may develop cellulitis due to infection with other organisms, including gram-negative bacilli (eg, Pseudomonas, Proteus, Serratia, Enterobacter, Citrobacter), anaerobes, other opportunistic pathogens (eg, Helicobacter cinaedi, Fusarium species), mycobacteria, and fungi (eg, Cryptococcus). Preseptal cellulitis caused by dermatophytes is rarely observed, mostly in the pediatric age group. Persistent cellulitis due to Cryptococcus neoformans infection has also been reported in a patient receiving renal dialysis.
• Escherichia coli may be responsible for cellulitis in patients with nephrotic syndrome.
• Cellulitis from unusual bacterial species, including Enterococcus faecalis, Enterobacteriaceae, and Bacteroides and Clostridium species, may be observed following subcutaneous injections of illegal drugs. If Clostridium species or other anaerobes (Bacteroides, Peptostreptococcus, Peptococcus, Prevotella) cause the infection, crepitant cellulitis is often observed clinically.
• Other uncommon causes of cellulitis include Neisseria meningitidis; Mycobacterium avium-intracellulare; Pasteurella multocida, following animal bites; Aeromonas hydrophilia, following contact with fresh water; Streptococcus iniae, a fish pathogen causing infections in aquaculture farms; and Chromobacterium violaceum and Vibrio vulnificus, following contact with seawater. Cellulitis from marine vibrios in hepatopathic patients may also follow ingestion of contaminated raw oysters. Acinetobacter baumannii is an emerging multidrug-resistant pathogen that causes hospital-acquired soft tissue infections, including cellulitis, following gunshot wounds or use of invasive devices. H influenzae has become a rare cause of buccal cellulitis in children after the introduction of the H influenzae type B vaccine

Source: http://emedicine.medscape.com/article/1053686-overview

Harlequin Ichthyosis is a very rare, incurable, genetic skin condition. In it, the skin grows far faster than normal. This condition is seen in individuals only when both parents carry the same defective gene. The chances of this are one in a million. However, the chance of these parents producing a harlequin child are 1 in 4.

In sufferers of Harlequin Ichthyosis, the whole body becomes completely encased in a very thickened, scaly suit of skin armor. The skin becomes very tight causing restriction of movement of the arms and legs and, particularly, the fingers and toes. The face is deformed, the eyelids are inverted, the ears are bound down, and the mouth is very tight. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence.

Treatment

Unfortunately, there no known cure for Harlequin Ichthyosis and treatment is largely supportive. This involves optimizing fluid, electrolyte, and nutritional repletion, aggressive use of emollients, and environmental measures to decrease transepidermal water loss. Treatment of harlequin babies can be done with a battery of medication ranging from oral retinoids to antiseptics and topical paraffin ointments to soften the skin. In general, harlequin fetuses do not survive for long. There have been improvements in care, most notably the drug Isotrex.

Sources:

http://ghr.nlm.nih.gov/condition=harlequinichthyosis

http://www.mymultiplesclerosis.co.uk/misc/harlequin.html

Dermatitis Herpetiformis is a rare and chronic skin disorder characterized by extremely itchy and almost intolerable rashes made of bumps and blisters that normally occur on the elbows, knees, shoulders, back, and buttocks. It is believed to be related to coeliac disease, a disorder of the small intestine. Dermatitis Herpetiformis is also referred to as Durhing’s disease.

The predominant symptoms of Dermatitis Herpetiformis include intense burning, stinging, and itching sensations in affected areas. Diagnosis is mainly through physical evidence and analysis of skin biopsies. The ailment most commonly affects young adults, particularly males, aged 20 and higher. Estimates suggest that the disease currently affects about 11.2 out of every 100,000 people in the United States and about 10 out of every 100,000 people internationally. The disease is more common in young males of European descent (particularly from Scandinavian countries) than those of other ethnic backgrounds.

The exact cause of Dermatitis Herpetiformis is unknown but it is believed to be related to an allergy to gluten, a protein found in wheat and other grains. When gluten combines with IgA (an antibody produced by the intestines), the combination enters the blood stream and begins circulating. This combination then causes small blood vessels in the skin to get clogged up, attracts while blood cells, and secretes chemicals which then cause rashes to form.

Treatment

The most effective means of treating Dermatitis Herpetiformis is with a drug called Dapsone. Dapsone can alleviate symptoms within days but it does have side effects like haemolytic anaemia, a blood disorder. Therefore, its usage should be monitored closely and it should only be taken under the supervision of a qualified physician. For those intolerant or allergic to Dapsone, topical and systemic steroids and Sulfapyridine are also available options. A gluten free diet is also highly recommended and this reduces dependence on Dapsone and the risk of developing other conditions.

Epidermolysis Bullosa (EB) is a rare disease which causes the skin to be extremely fragile and vulnerable to blisters. The blisters may develop both on the outer skin and inside the body along the linings of the mouth and in other internal organs such as the esophagus, respiratory tract, stomach, intestine, and genitals. Even minor rubbing, without the victim’s knowledge, can cause these blisters to form and cause extreme pain. The disease is believed to be have a genetic basis and is caused by a mutation of the keratin gene. In severe cases, this disease can be life threatening.

Epidermolysis Bullosa affects about 2-4 out of every 100,000 people in the United States. Both men and women of all ages and races have been equally impacted by the disease. The most obvious sign of infection is blistering. Others include redness and heat around open areas of the skin, pus or yellow discharge, crusting on the wound, wounds that won’t heal, and fevers and chills.

There are three major forms of Epidermolysis Bullosa. These include EB Simplex, EB Junctional and EB Dystrophic. EB Simplex affects the epidermis or outer layer of skin. In EB Simplex, blistering normally occurs on the hands and feet, although it could develop all over the body. EB simplex is the most common form of Epidermolysis Bullosa. The Junctional and Dystrophic are the more severe but less common variants of the disease. They affect an area of the skin known as the basement membrane zone, which is where the epidermis and dermis (the inner layer of skin) meet. EB Junctional can affect the lining of the gut making swallowing difficult; infants affect by this disease do not survive past the toddler years. EB Dystrophic results in severe scarring of external skin, including the hands, feet, and face, as well as the gastrointestinal tract.

Treatment

There is no cure for EB and treatment is symptomatic. The goal is to protect the skin as much as possible to avoid the formation of blisters and prevent infections from developing. Dermatologists commonly prescribe topical and oral medications to facilitate healing. Some measures that victims should take include maintaining a cool environment and good nutrition (even if swallowing is difficult), applying lotion, wearing soft clothing, using sheepskin on furniture to reduce friction against the skin, and treating blisters as prescribed by their physicians. In severe cases such as when scarring has narrowed the esophagus and made it difficult for food to go down, surgery may be necessary.

Morgellon’s disease is a very rare and mysterious skin condition that has been reported recently in the US and a number of other countries. It is characterized by itchy, painful skin lesions and a creepy-crawly sensation of fibers growing from inside the skin. Patients commonly complain of a feeling that insects are crawling under their skin and are stinging or biting them. Other symptoms include fatigue, memory loss, visual impairment, and difficulty concentrating. Due to some of these strange symptoms, many patients purported to be victims of this disease have been incorrectly diagnosed as having a psychiatric disorder. Cases of Morgellon’s disease have been reported in all 50 states of the US (mostly in Texas and Florida), Canada, Australia, and the UK.

At present, most physicians and dermatologists within the medical community hold the view that Morgellon’s disease is not a new disease but is simply a new name for known medical conditions. In some cases these are known skin disorders like scabies, allergic dermatitis, and contact dermatitis. Nevertheless, the Centers for Disease Control (CDC) has bowed to pressure from the Morgellon Research Foundation and a growing number of claimed Morgellon patients and are currently investigating the condition further. The CDC refers to this condition as Unexplained Dermopathy. Present research is inconclusive and the CDC states that it is unknown as to whether this is a new condition or whether individuals claiming to have Morgellons have some shared basis for the symptoms they display. While it is not known whether the condition is contagious, studies have shown that the disease is more likely to impact members of the same family.

Treatment

Because so little is know regarding this disease, there is no conclusive cure or course of treatment. Some dermatologists regard Morgellons as a delusional condition and prescribe anti-psychotic drugs like Pimozide, which also helps reduce the itching sensation that patients experience. Other physicians may prescribe antibiotics and anti-parasitic medications. Patients convinced that they have Morgellon’s often reject that their condition is delusional and look for alternative means of treatment on websites and discussion groups. As with any disease, however, the best form of treatment is simply to contact a qualified physician who understands the symptoms and follow his or her instructions.

Stevens-Johnson syndrome (aka Erythema multiforme major) is a rare and potentially life threatening inflammatory disease in which the skin and mucous membranes react severely to a particular type of medication or infection. Stevens-Johnson syndrome starts with flu-like symptoms and is followed by painful red or purple colored rashes that spread and form blisters across the skin, eventually causing the top layer to shed and die.

Causes

Stevens-Johnson Syndrome has most often been caused by drugs, especially sulfas, non-steroidal anti-inflammatory drugs (NSAIDs), and anticonvulsants such as phenytoin. Any drug, however, is a potential cause.

Coxsackievirus, echovirus, and most commonly, herpes simplex viruses as well as mycoplasma have been known to trigger the syndrome. Vaccines, such as those used to treat tuberculosis and polio, have also been linked to the disease. In about 50 percent of cases, no causes was identified.

Victims of Stevens-Johnson generally tend to be between the second and fourth decades of their lives. However, the disease has affect children as young as three months and any age group is susceptible.

Symptoms

Stevens-Johnson syndrome typically affects the mucous membranes of the oral cavity, nostril, eyes, and both the anal and genital regions. It may or may not be associated with skin lesions elsewhere on the body. Oropharyngeal (mouth) lesions can be especially intolerable and can hinder eating. There may also be recurring oral ulcers. Often, the skin lesions may look like a target-lesion (3 concentric zones of color change) or as bullae (bubble-like).

A painful conjunctivitis may occur in the eye, frequently with a pus discharge, and can lead to corneal scarring and loss of vision. In addition to the mucous membrane lesions, fever and exhaustion are usual.

Approximately one-third of patients have pulmonary involvement with cough and patchy infiltrates (material that has permeated into the tissues) on chest x-ray. In fatal cases, renal failure and pneumonia may occur.

Diagnosis

Diagnosis of Stevens-Johnson Syndrome is based on the clinical appearance and distribution of the skin and mucosal lesions. Skin biopsies are often performed to detect Stevens-Johnson syndrome.

Treatment

Every attempt should be made to identify a precipitating agent, and to remove it if possible. Antibiotics are appropriate if superinfection (a fresh infection added to one of the same nature already present) is suspected, or if bacterial disease, such as mycoplasma, is suspected to be the cause. Intensive supportive care is important in severe cases, including specialized care in a burn unit.

Fluid replacement is often required, and meticulous oral hygiene is necessary to prevent superinfection. Examination by an ophthalmologist is recommended for patients with eye lesions so that precautions can be taken to avoid permanent eye damage. Oral and topical corticosteroids are often used.

Sources:

http://www.healthscout.com/ency/68/698/main.html%23SymptomsofStevens-JohnsonSyndrome

Aplasia cutis congenita is a skin disorder in which an infant is born with a patch of skin missing, usually on the scalp. This may occur by itself or be associated with other physical syndromes or disorders. Many forms of aplasia cutis congenita are inherited. The disorder affects both males and females of all ethnic backgrounds and is rare, but exactly how often it occurs is unknown.
A classification system exists for aplasia cutis congenita consisting of 9 groups based on the number and location of the skin defects and the presence or absence of other malformations.

Symptoms

The infant born with aplasia cutis congenita has a patch of skin missing, usually on the scalp (70% of individuals), but it may also occur on the trunk, arms, or legs. There may also be more than one missing patch. The affected area is usually covered with a thin transparent membrane, is well-defined, and is not inflamed.

If aplasia cutis congenita occurs on the scalp, there may be a defect of the skull underneath the missing patch. In this case, there is often distorted hair growth around the patch, known as the hair collar sign.

Diagnosis

Diagnosis of aplasia cutis congenita is made based on the physical appearance of the infant’s skin. No specific laboratory test is needed. Very large scalp defects, especially those with the hair collar sign, should be investigated for possible underlying bone or soft tissue defects.

Treatment

Usually the only treatment required for aplasia cutis congenital is gentle cleansing of the affected area and the application of a silver sulfadiazine or other ointment to prevent the patch from drying out. Most affected areas will heal on their own over several weeks, resulting in the development of a hairless scar. Small bone defects also usually close on their own within the first year of life. Surgical repair is not usually needed unless the missing area of skin is large, or there are several areas on the scalp affected.

Sources:

About.com

Crowe, M. (2005). Aplasia cutis congenita. eMedicine, accessed at http://www.emedicine.com/derm/topic32.htm
National Organization for Rare Disorders. Aplasia Cutis Congenita

Imagine having a skin disease that your doctor did not understand, that was painful, that none of the treatments you tried made any better, and that kept getting worse over time. Some days you wouldn’t go out in public because of the painful sores on your skin. You would then have some idea of what having hidradenitis suppurativa is like.

Symptoms
Hidradenitis suppurativa usually develops in otherwise healthy people, but it has been associated with Crohn’s disease in some individuals. It is a non-contagious skin disease that usually appears on the body in skin folds of the underarms, groin, or perianal area. It has three main stages, beginning with boils or pockets of infection (abscesses). These become hard, painful, inflamed lumps with drainage (suppuration). Tunnels (sinus tracts) may form around and between the lumps. Scars form. The last stage is the most debilitating, because large areas of skin are affected by the abscesses, sinus tracts, lumps, and scars.

Worsens over time
Hidradenitis suppurativa usually develops slowly over time, with flare-ups, but in some people the disease progresses quickly. The course of the disease varies for each person. Some will stay at one stage most of the time; others will develop debilitating disease.

Treatment
There is as yet no definitive, consistently effective treatment, and no cure. Abscesses can be drained, and in severe cases the painful lumps and sinus tracts can be surgically removed. Radiation therapy has proved helpful for some people. Pain medications, and sometimes antibiotics, can also help.

A rare disorder?
Few studies have attempted to discover how prevalent hidradenitis suppurativa is in the world. One figure given is 1% of the general population is affected. It seems clear that the disease could be easily misdiagnosed as boils, carbuncles, or just a skin infection, so hidradenitis suppurativa may not be rare at all. More research needs to be to determine what causes the disease, how prevalent it is, and how it can best be treated and cured.

Information for this article was taken from:
- HS USA.org. What is Hidradenitis Suppurativa?
- Jovanovic, M. (2002). Hidradenitis suppurativa. eMedicine, accessed at http://www.emedicine.com/derm/topic892.htm

Source: http://rarediseases.about.com/cs/hidradenitissupp/a/072703.htm

Named after Dr. Sweet of Plymouth, England in 1964, Acute neutrophilic dermatosis (aka Sweet Disease) is a disease characterized by the sudden appearance of tender red lumps or papules and plaques on the limbs, face, neck, and other parts of the body. A sudden onset of fever and leukocytosis usually accompany the plaques. The condition seems to be most prevalent in middle-aged women but men and children may also be affected. There are many causes of Sweet Disease including upper respiratory tract infection, vaccination, inflammatory bowel disease (e.g ulerative colitis or Colon disease), blood disorders (e.g leukaemia, myelogenous leukaemia or myelodysplastic syndromes), cancer (usually of the bowel), pregnancy, and drugs such as anti-inflammatory medications.

Symptoms

Key symptoms of Sweet disease include:

• High or moderate fever
• Tiredness and malaise (feeling unwell)
• One or more tender red papules or plaques. These enlarge and persist for several weeks. They may have blisters, pustules or ulcers. Sometimes they appear to clear in the center
• Aching joints and headache
• Sore eyes and/or mouth ulcers
• Sometimes other organs are affected including bones, nervous sytem, kidneys, intestines, liver, heart, lungs, muscles and spleen.

Skin lesions may arise at the site of injury such as a needle prick, biopsy or insect bite. It some patients they arise only in sun exposed areas.

Sweet disease is related to pyoderma gangrenosum, and is sometimes difficult to distinguish from it.

Treatment

Treatment tends to rapidly alleviate symptoms of Sweet Disease. Systemic steroids (prednisone) is normally prescribed at first in doses of 30-40 mg at first. Skin lesions and other symptoms then tend to clear up within a few days. Lower doses of steroids may, however, need to be continued for several weeks to months to prevent relapse.

Other medications that may be used to treat Sweet Disease when steroids are ineffective or counterproductive include:

• Dapsone
• Colchicine
• Non-steroidal anti-inflammatory drugs.
• Biologic response modifiers

Sources:

DermNet NZ

Pemphigus is a group of rare skin disorders that cause blisters of your skin or mucous membranes, such as in your mouth or on your genitals. It can occur at any age, but tends to strike people in middle age or older. Although it affects all races and cultures, pemphigus tends to be more common in people of Middle Eastern or Jewish descent. Pemphigus is usually chronic condition and is best controlled by early diagnosis and treatment, which may include medications or treatments similar to those used for severe burns. The less widespread your pemphigus is, the easier it may be to control.

The exact causes of pemphigus is unknown, but it’s an autoimmune disorder. Your immune system normally attacks foreign invaders, such as harmful viruses and bacteria. But in pemphigus, your immune system mistakenly produces antibodies that attack healthy cells in your skin and mucous membranes, and more specifically proteins called desmogleins in the majority of cases. Desmogleins bind skin cells to each other. The antibodies binding to the skin cause separation of the cells of the top layer of your skin (epidermis). This separation reaction is known as acantholysis.

Sometimes, pemphigus develops as a side effect from certain medications, such as blood pressure drugs or chelating agents. This type of pemphigus usually disappears when the medicine is stopped.

Paraneoplastic pemphigus is caused by additional antibodies to those seen in other forms of the disorder. It develops in people who have cancer, usually lymphoma or leukemia. In cases in which the cancer hasn’t yet been discovered, the appearance of pemphigus blisters may alert doctors to look for a malignancy.

Symptoms

Pemphigus is characterized by blisters on your skin and mucous membranes. The blisters rupture easily, leaving open sores, which may ooze and become infected. The signs and symptoms of the three main types of pemphigus differ depending on the type:

• Pemphigus vulgaris. The most common form, pemphigus vulgaris usually begins with blisters in your mouth, which then erupt on your skin. Blisters can also break out on the mucous membranes of your genitals. The blisters typically are painful, but don’t itch.
• Pemphigus foliaceus. This type doesn’t usually affect mucous membranes. The blisters, which usually begin on your face and scalp and later erupt on your chest and back, usually aren’t painful. They tend to be crusty and itchy.
• Paraneoplastic pemphigus. This form, which may be associated with a malignancy, causes painful sores on your mouth and lips and in your esophagus, as well as skin lesions. This form of pemphigus can also cause lesions in your lungs, resulting in progressive lung disease and making it difficult for you to breathe (dyspnea).

Treatment

Treatment, which aims at reducing signs and symptoms and preventing complications, is most effective when it begins as early as possible. The less widespread pemphigus is, the easier it may be to control. Specific treatment methods depend on the severity of the disease.

In mild cases of pemphigus, patients may remain at home and the main form of treatment is usually corticosteroids, such as prednisone. However, extended use of corticosteroids can have side effects like weight gain, mood swings, high blood sugar (diabetes), osteoporosis, and increased chances of infection due to a suppressed immune system. Corticosteroids may also be combined with other medications like immunosuppressants (e.g. azathioprine, methotrexate) which prevent your immune system from attacking healthy tissues and antibiotics and antifungal medications as prescribed by physicians.

In severe cases of pemphigus, hospitalization may be necessary where treatment similar to severe burns may be provided. Open sores make victims vulnerable to infections and can be fatal if spread into the bloodstream. Specific forms of treatment (in addition to the medicines used for mild cases) include fluids delivered intravenously, electrolytes (minerals like sodium, potassium, and calcium that maintain the balance of fluids in the body), and proteins, intravenous feeding (if mouth sores make it hard to eat), and anesthetic mouth lozenges (to help control pain of mouth sores). Therepeutic plasmapheris may also be used where plasma is remove from blood cells using a cell separator to get rid of antibodies attacking the skin.

Note: Material for this article is courtesy of Mayo Foundation for Medical Education and Research (MFMER).

Sources:

http://www.MayoClinic.com
http://www.ohiohealth.com/blank.cfm?xyzpdqabc=0&id=6&action=detail&ref=2839