What is the treatment for Hailey Hailey disease?
Treatment Treatment. There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. People with Hailey-Hailey disease are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry.
Is there a genetic test for Hailey Hailey disease?
Genetic testing is available to confirm the diagnosis, but is not required. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known.
What is the prognosis of Hailey-Hailey disease?
Hailey–Hailey disease then tends to persist life-long. It can affect people of all races. The lesions are most commonly seen in the sides of the neck, armpit, and groin areas and under the breast. These patients may complain of a heavy odor and itching, which may be a social distress to patients’ lives.
What causes Hailey-Hailey disease?
Hailey-Hailey disease is caused by a genetic change (mutation) in the ATP2C1 gene. The ATP2C1 gene contains instructions for creating (encoding) a protein that acts as a calcium and magnesium pump in the cells.
Is there a cure for Hailey-Hailey disease?
How is benign familial pemphigus treated? There is no cure for Hailey-Hailey disease. Treatment is aimed at reducing symptoms and preventing flares.
Is Hailey-Hailey disease chronic?
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts.
What triggers Hailey-Hailey disease?
Disease at a Glance Symptoms are often worse in summer months due to heat, sweating, and friction. Hailey-Hailey disease is caused by genetic changes in the ATP2C1 gene and is inherited in an autosomal dominant manner.
When does Hailey-Hailey disease start?
What does Hailey-Hailey disease look like? The condition usually first appears between the ages of 15 and 40 years, but it may begin at any age. The severity of the condition varies widely and is unpredictable.
How do you test for Hailey-Hailey?
The diagnosis of Hailey-Hailey disease usually is made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be needed. Genetic testing is available to confirm the diagnosis, but is not required.
What is acquired keratosis Follicularis?
Keratosis follicularis: A genetic skin disease that is characterized by slowly progressive hardening of the skin (keratosis) around the hair follicles. This disorder is inherited in an autosomal dominant manner and is due to mutation in a gene called ATP2A2 on chromosome 12. Also known as Darier disease.
What is the name of the disease where your skin falls off?
epidermolysis bullosa simplex (EBS) – the most common type, which can range from mild, with a low risk of serious complications, to severe. dystrophic epidermolysis bullosa (DEB) – which can range from mild to severe.
What does Acantholysis mean?
Acantholysis means loss of coherence between epidermal cells due to the breakdown of intercellular bridges. It is an important pathogenetic mechanism underlying various bullous disorders, particularly the pemphigus group, as well as many non-blistering disorders.
What is Grover's disease?
Grover's disease is a rare, transient skin disorder that consists of small, firm, raised red lesions, most often on the skin of the chest and back. Diagnosis of this disorder becomes apparent under microscopic examination when the loss of the “cement” that holds the skin cells together is observed.
What is Hailey's disease?
Hailey-Hailey disease is also known as familial benign pemphigus. It is a genetic ( inherited) disease of the skin. Signs and symptoms of Hailey-Hailey disease include a painful, blistering skin rash that typically occurs in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks.
What is the best treatment for botulism toxin?
Botulinum toxin, CO 2 ablation laser, and dermabrasion are the most studied and have shown to be effective treatments. Some reports show that low-dose botulinum toxin type A injections should be given first in hard-to-treat cases because it is well-tolerated, effective, and has few or mild negative side effects.
Is Hailey-Hailey disease autosomal dominant?
Hailey-Hailey disease is inherited in an autosomal dominant manner, meaning that only one parent needs to have a copy of the defective gene to affect the offspring.
How is Hailey-Hailey disease inherited?
Hailey-Hailey disease is inherited in an autosomal dominant manner . [2] This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause features of the disease. Some people with Hailey-Hailey disease inherit the disease from a parent with the disease. Other cases are due to a new mutation in the gene and occur in people with no family history of the disease. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.
What is the name of the database that lists journal articles that discuss Hailey-Hailey disease?
PubMed is a searchable database of medical literature and lists journal articles that discuss Hailey-Hailey disease. Click on the link to view a sample search on this topic.
How to find a doctor for a syphilis?
You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
Who maintains the Hailey-Hailey website?
Genetics Home Reference contains information on Hailey-Hailey disease. This website is maintained by the National Library of Medicine.
What is the best treatment for bacterial, viral, and fungal infections?
Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used. [3] [6] Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms.
What is Hailey's disease?
Hailey–Hailey disease also known as benign familial pemphigus is a rare hereditary blistering skin disease that usually appears in the third or fourth decade , although it can occur at any age. Hailey-Hailey disease is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather. Hailey–Hailey disease then tends to persist life-long. It can affect people of all races.
What is the gene that causes Hailey-Hailey disease?
Hailey–Hailey disease or benign chronic pemphigus results from mutations in the ATP2C1 gene found on chromosome 3q21-24. This gene provides instructions for producing a protein called hSPCA1 (Secretory Pathway Calcium/manganese-ATPase), which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). The hSPCA1 protein appears to be particularly important for the normal function of cells called keratinocytes, which are found in the outer layer of the skin (the epidermis).
Is Hailey's disease a benign disease?
Usually, Hailey Hailey disease or benign familial pemphigus is diagnosed by its appearance and family history, but it is often is mistaken for other skin problems. Impetigo, thrush, tinea (jock itch) and other blistering conditions look similar.
Can Hailey's disease cause a bad smell?
Secondary bacterial infection, which is not uncommon, can give rise to an unpleasant smell. Herpes simplex can infect blistered sites and may evolve to widespread, painful viral infection (eczema herpeticum).
Is Hailey's disease life threatening?
Hailey Hailey disease or benign familial pemphigus causes discomfort but is not life threatening. Hailey Hailey disease or benign familial pemphigus lesions often begin during the teenage years and manifest as itchy and malodorous plaques. Patients with Hailey Hailey disease or benign familial pemphigus live long and productive lives. The skin disorder is more of a nuisance than a serious health threat. New treatment options are under study and offer hope for better treatments in the future.
Anthony Chiaravalloti MD a and Michael Payette MD MBA b
IMPORTANCE: Hailey-Hailey disease, or familial benign chronic pemphigus, is a rare genodermatosis that can be challenging for both patients and dermatologists as the disease can significantly impact patients’ quality of life and is often difficult to control. In recalcitrant cases, multiple treatment modalities are often needed to obtain benefit.
INTRODUCTION
Hailey-Hailey disease, or familial benign chronic pemphigus was first described by the Hailey brothers in 1939. It is a rare genodermatosis inherited in an autosomal dominant manner with variable expressivity. The incidence has been estimated at 1/50,000 1 with equal predilection for males and females.
REVIEW
Hailey-Hailey is a difficult disease for patients and for physicians. Patients are discouraged by the frequent flares and debilitating morbidity while physicians struggle with refractory cases. The difficulty of treating recalcitrant disease is evidenced by the wide spectrum of treatments reported.
What is the Hailey-Hailey disease?
Hailey-Hailey disease (HHD, MIM #169600), also called benign familial pemphigus or benign chronic pemphigus, is a rare autosomal dominant disorder that affects the adhesion of epidermal keratinocytes. Initially described by the Hailey brothers in 1939 [ 1 ], this intraepidermal blistering disorder is characterized by painful blistering, erosions, maceration, and frequent secondary infection in the flexural areas. HHD is a chronic condition with multiple recurrences and limited therapeutic options.
What is Darier disease?
Darier disease, a condition that shares many clinical and pathologic features with HHD, is discussed separately. (See "Darier disease" .)
Is HHD inherited or inherited?
HHD is inherited in an autosomal dominant manner with complete penetrance and variable expressivity. Only two-thirds of patients have a family history of HHD; de novo mutations or lack of phenotypic expression in affected family members account for the absence of family history in the remainder.