| Hailey-Hailey disease | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q82.8 |
| ICD-9 | 757.39 |
| OMIM | 169600 |
| DiseasesDB | 29321 |
| MeSH | D016506 |
Hailey-Hailey disease, or Familial benign chronic pemphigus[1]:559 or Familial benign pemphigus[2]:622, was originally described by the Hailey brothers in 1939.[3][4] It is a genetic disorder that causes blisters to form on the skin.
Contents |
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 gene ATP2C1[5], located on chromosome 3, which encodes the protein hSPCA1. 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. Drugs such as antibiotics, antifungals, corticosteroids, dapsone, methotrexate, thalidomide, etretinate, cyclosporine and, most recently, intramuscular alefacept may control the disease but are ineffective for severe chronic or relapsing forms of the disease. Injections of botulinum toxin to inhibit perspiration may help. [6] Maintaining a healthy weight, 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.
Secondary bacterial, fungal and/or viral infections are common and may exacerbate an outbreak. Some patients have found that outbreaks are triggered by certain foods, hormone cycles and stress.
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ synd/2081 at Who Named It?
- ^ 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. (January 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nat. Genet. 24 (1): 61–5. doi:. PMID 10615129. http://dx.doi.org/10.1038/71701.
- ^ Carpenter, Teresa; Merchant, Farrukh (November 2008), "Familial benign pemphigus", Consultant 48 (12), http://www.consultantlive.com/photoclinic/article/10162/1350606
External links
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