Hailey-Hailey disease
| Hailey-Hailey disease | |
| ICD-10 | Q82.8 |
|---|---|
| ICD-9 | 757.39 |
| OMIM | 169600 |
| DiseasesDB | 29321 |
| MeSH | D016506 |
Overview
Hailey-Hailey disease, or familial benign pemphigus, was originally described by the Hailey brothers in 1939. [1][2] It is a genetic disorder that causes blisters to form on the skin.
Familial benign pemphigus originally was described by the Hailey brothers in 1939, and is commonly called Hailey Hailey disease.
It is characterized by outbreaks of rashes and blisters in the skin, usually in the folds of the skins, but also often over large areas of the body. The painful blisters break and sometimes become infected and raw, with new blisters forming over raw skin in a sometimes seemingly unending cycle of outbreaks.
The cause of the disease is a defect in the calcium pump ATP2C1 gene which is located on chromosome 3. This causes the cells of the skin to not adhere together properly, causing the blisters and rashes. There is no cure.
Topical steroid preparations have some effect during outbreaks, but do not stop them. Secondary bacterial, fungal and/or viral infections are common and may exacerbate an outbreak. Avoiding heat and friction of affected areas and keeping the area clean and dry work about as well.
Some have found relief in laser resurfacing that burns off the top layer of the epidermis, allowing healthy non-affected skin to regrow in its place. Reducing sweat production is helpful in many cases. Some patients have found that outbreaks are triggered by certain foods, hormone cycles and stress.
Unfortunately, there is not much that really helps when the outbreaks come, except to suffer through them, "suffer" being the key word here, since the outbreaks are often extremely painful.
Signs and symptoms
It is characterized by outbreaks of rashes and blisters in the skin, usually in the folds of the skins, but also often over large areas of the body. The painful blisters break and sometimes become infected and raw, with new blisters forming over raw skin in a sometimes seemingly unending cycle of outbreaks.
Causes
The cause of the disease is a defect in the calcium pump ATP2C1[3] gene which is located on chromosome 3. This causes the cells of the skin to not adhere together properly, causing the blisters and rashes. There is no cure.
Treatment
Topical steroid preparations have some effect during outbreaks, but do not stop them. Secondary bacterial, fungal and/or viral infections are common and may exacerbate an outbreak. Avoiding heat and friction of affected areas and keeping the area clean and dry work about as well.
Some have found relief in laser resurfacing that burns off the top layer of the epidermis, allowing healthy non-affected skin to regrow in its place. Reducing sweat production is helpful in many cases. Some patients have found that outbreaks are triggered by certain foods, hormone cycles and stress.
References
- ↑ Template:WhoNamedIt
- ↑ H. Hailey, H. Hailey. Familial benign chronic pemphigus. Report of 13 cases in four generations of a family and report of 9 additional cases in 4 generations of a family. Archives of Dermatology and Syphilology, Chicago, 1939, 39: 679-685.
- ↑ Hu Z, Bonifas JM, Beech J; et al. (2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nat. Genet. 24 (1): 61–5. doi:10.1038/71701. PMID 10615129. Unknown parameter
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Controversy
Pemphigus is not Benign Familial Pemphigus, usually called Hailey-Hailey disease. Some medical books refer to Hailey-Hailey Disease as 'Benign Familial Pemphigus' but it is not true pemphigus. Hailey-Hailey is not an autoimmune disease as is pemphigus, it is genetic. There are some similarities in the blisters, but Hailey-Hailey is not caused by an auto-antibody, as in PV. For more information Click here
External links
Template:Congenital malformations and deformations of integument
de:Morbus Hailey-Hailey nl:Familiaire benigne chronische pemphigus