Hailey-Hailey disease is an autosomal dominant inherited skin disorder. Individual areas of patients’ skin blister when exposed to external agents such as UV light. Invasive and drug therapies are available for treatment.
What is Hailey-Hailey disease?
Blistering of the skin can have a wide variety of causes. One possible cause is Hailey-Hailey disease. In this skin condition, the skin blisters from birth. Accordingly, the disease is a congenital skin disease, which is counted among the congenital skin malformations. Hailey-Hailey disease was first described in 1939. The initial description is attributed to the US brothers William and Hugh Hailey, who both worked in dermatology. In addition to the name Hailey-Hailey disease, various names have since become established for the condition. These include Chronic recurrent acantholysis or Dyskeratosis bullosa hereditaria are the synonymous names familial benign pemphigus. However, the terms Hailey-Hailey syndrome, Hailey-Hailey disease, Gougerot-Hailey-Hailey disease, recurrent herpetiform dermatitis and pemphigus chronicus benignus familiaris are also in use for the clinical picture. The skin disorder is a hereditary disease that is sometimes classified in the superordinate group of dermatoses and immediately catches the eye by typically arranged erosions of the skin during visual diagnosis.
Causes
The blister formation in Hailey-Hailey disease is acantholytic in nature. Corneal formation-controlling cells are normally located in the prickle cell layer, or germinal layer, of the epidermis. In patients with Hailey-Hailey disease, the skin-forming cells detach from the epidermis, causing blisters to form. The cause is a hereditary mutation of the ATP2C1 gene, which codes for an ATPase, i.e. an ATP-cleaving enzyme. The mutation results in abnormally constructed ATPases. Thus, the Ca content in the Golgi apparatus decreases and a defective processing for adhesion molecules occurs. In addition, cell-to-cell adhesion and adhesions to acantholysis proceed inappropriately. Hailey-Hailey disease is passed on in an autosomal dominant inheritance with variable penetrance. In addition to endogenous causative factors, exogenous influences such as moisture, heat, and microbes play a role in the onset of the disease. The endogenous factors alone only cause a genetic disposition. Exposure to the exogenous factors leads to disease onset if there is a predisposition. Heavy sweating, infections, heat, and UV exposure are important influences in this context.
Symptoms, complaints, and signs
Patients of Hailey-Hailey disease suffer from skin blistering, which occurs particularly in the moist warm armpit and groin areas. The skin lesions are initially erythema or skin redness that occurs due to increased blood flow following inflammatory processes. In many patients, in addition to the armpits and groin, the neck and anal area are affected. In the corresponding areas, the skin pigmentation changes. Discoloration of the skin is the result. In addition to the skin symptoms, most of those affected suffer from severe itching. Apparently, there is an increased risk of superinfections. Many case reports describe, for example, recurrent infections with bacteria at the inflamed skin sites. In most cases, the skin lesions appear as weeping areas, often with a crusted and cracked surface. The severity of the disease can vary from case to case and is essentially related to the external influencing factors. The initial manifestation of the skin disease does not have to occur immediately after birth. Only the disposition is congenital.
Diagnosis and course of the disease
Family history plays an increased role in the diagnosis of autosomal dominantly inherited Hailey-Hailey disease. Some skin diseases are easily confused with Hailey-Hailey disease. Thus, differential diagnosis requires exclusion of erythrasma, fungal infections of the skin, and candida intertrigo. Pemphigus vegetans, a severe and chronic skin disease of unknown cause, should also be excluded as a possible disease.Although molecular genetic detection of the causative mutation can undoubtedly confirm the diagnosis of Hailey-Hailey disease, it is rarely performed because of the high cost.
Complications
In most cases, Hailey-Hailey disease leads to impairments on the patient’s skin. It mainly results in the formation of blisters and other unpleasant symptoms on the skin, which can significantly reduce the quality of life of the affected person. Furthermore, the skin often turns red and itching occurs. Inflammations can also occur on the skin and lead to inferiority complexes or reduced self-esteem in the affected person. Children may also be bullied or teased by the symptoms of Hailey-Hailey disease. In some cases, the disease causes hyperpigmentation. The skin itself becomes cracked and infections or inflammation on the skin occur more often. Unfortunately, Hailey-Hailey disease is not causally treatable. For this reason, treatment is mainly aimed at limiting the symptoms and discomfort. This does not lead to further complications. With the help of creams and antibiotics it is possible to limit the symptoms. Also the life expectancy of the affected person is usually not reduced by Hailey-Hailey disease. In severe cases, surgical interventions are also necessary.
When should you see a doctor?
Abnormalities and changes in skin appearance are signs of an existing irregularity. If blistering of the skin occurs, a visit to the doctor should be made. If the blisters multiply when exposed to light, this should be understood as a characteristic feature of Hailey-Hailey disease. The armpits, neck, anal area or groin are particularly affected by the changes. Redness or repeated inflammations indicate a disease that needs to be clarified and treated. Changes in pigmentation as well as itching should be presented to a physician. If open wounds occur due to itching, sterile wound care must be provided, otherwise germs can enter the organism and trigger diseases. Since in the worst case blood poisoning with potential danger to life is imminent, the wound care should be taken over by a doctor if the affected person cannot ensure it himself to a sufficient degree. In Hailey-Hailey disease, patients are at increased risk of superinfection. Therefore, a physician should be consulted at the first irregularities in wound healing. Crusting, wet wounds or cracked skin should be presented to a physician. Although it is a genetic condition, there is a possibility that the symptoms may become apparent later in life rather than immediately after birth.
Treatment and therapy
There is no causative therapy for patients with Hailey-Hailey disease. Affected individuals receive supportive and symptomatic treatment accordingly, but their disease is not curable. One of the most important treatment steps is education about the exogenous factors. Since not every affected person reacts strongly to the same factors, the triggers that are particularly risky in the individual case must first be identified. Once this has been done, these triggers are avoided as far as possible. Some patients additionally benefit from avoiding any skin contact that could cause additional irritation of the skin. If the disease is acute, the blisters are usually treated locally with glucocorticoids. Often, conservative medical treatment is combined with antibiotic administration. In case of a particularly severe course, systemic application takes place. In individual cases, invasive therapy is used. This form of treatment usually corresponds to dermabrasion. In this case, the physician either removes the affected layers of the epidermis with a laser or performs a plastic surgical procedure. Both of these invasive treatments have achieved more long-term improvement in the past. Nevertheless, the severity of the symptoms determines whether the benefits outweigh the risks of surgery in individual cases. Laser treatment usually does not require hospitalization. In many cases, local anesthesia is used to reduce the risks.
Outlook and prognosis
Hailey-Hailey disease offers a comparatively good prognosis. By avoiding typical triggers, symptoms can be largely contained.However, should sweating occur, serious complications are imminent. Symptoms such as sensitive itching and infections have a negative effect on well-being and should be avoided for this reason. Life expectancy is not reduced by Hailey-Hailey disease. However, in isolated cases, serious health complications occur as a result of superinfection. Blood poisoning can occur, which may be fatal. Cortisone preparations, antibiotics and modern measures such as dermabrasion have additionally improved the prognosis in recent years. Most sufferers can lead a symptom-free life without major restrictions. However, a causal treatment for the condition is not yet available, which is why sufferers are often dependent on comprehensive treatment for the rest of their lives. The final diagnosis is made by the dermatologist or internist in charge. For this purpose, he consults the symptom picture and the severity of the disease. If necessary, the courses of disease of ill persons from the environment of the ill person are also consulted in order to set the prognosis.
Prevention
Hailey-Hailey disease can be safely prevented only to the extent that ill parents wish to avoid having children of their own. On the other hand, although their own children are born with a disposition, they are not necessarily at risk for disease onset. Since Hailey-Hailey disease does not threaten patients’ lives, the decision not to have one’s own children is debatable.
Follow-up
Hailey-Hailey disease, also called pemphigus chronicus benignus familiaris, usually has a chronic recurrent course. The onset of symptoms is often triggered by trauma, heat, moisture, or the colonization of microorganisms. Therefore, in the aftercare, care should be taken to wear appropriate clothing that prevents the above-mentioned, i.e. not abrasive or too tight-fitting. If, in the case of persistent recurrences, the affected areas have to be surgically removed, appropriate aftercare of the wound must be ensured. This includes regular dressing changes and removal of any suture material used at the appropriate time. If COs laser treatment has been used as a treatment option, special attention must be paid to appropriate aftercare. Approximately one to two hours after laser treatment the skin will burn, in this case it can be cooled with the help of a cool pack. In the first 24 hours there should be no contact with water. In the following three to five days, care should be taken to gently re-fat the skin with appropriate highly effective preparations. Since the newly formed skin is very sensitive, sun exposure should be strictly avoided. In the next one to three months, the use of highly moisturizing skin care products is very important. In addition, consistent sun protection of at least SPF 25 is advised.
What you can do yourself
Hailey-Hailey disease sometimes causes irregularities during healing. In this case, a doctor should be consulted to avoid worse consequences. It is possible that the crusting, cracked skin or weeping wounds will otherwise lead to new problems. This also applies to any itching that develops or to altered pigmentation of the skin. It is very important to protect the skin by wearing loose-fitting clothing. Clothing that fits too tightly could irritate the skin. Constant skin contact with other people can also lead to unfavorable consequences. Other risk factors include excessive UV exposure and intense heat. Those affected should therefore avoid situations in which they sweat heavily. Humidity could favor infections. In order to promote wound healing, it is worthwhile to observe certain precautionary measures. Sick people react differently to different factors, so it is important to know your own sensitivity. Some triggers for increased infections are at higher risk and should be avoided accordingly. In any case, the skin should be irritated as little as possible. In addition, patients should always follow the doctor’s recommendations exactly and be careful in their daily activities.