関: benign familial pemphigus

WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/09/06 05:10:38」(JST)

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Hailey–Hailey disease, or familial benign chronic pemphigus^[1]^:559 or familial benign pemphigus^[2]^:622 was originally described by the Hailey brothers (Hugh Edward and William Howard) in 1939.^[3]^[4] It is a genetic disorder that causes blisters to form on the skin. Sometimes known as Gougerot-Hailey-Hailey syndrome to acknowledge the contribution of Henri Gougerot in 1933.

Signs and symptoms[edit source | edit]

R Axilla during outbreak

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[edit source | edit]

The cause of the disease is a haploinsufficiency of the enzyme ATP2C1;^[5] the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1. A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters and rashes. There is no known cure.

The differential diagnosis includes intertrigo, candidiasis, and frictional or contact dermatitis. A biopsy and/or family history can confirm. The lack of oral lesions and intercellular antibodies distinguishes familial benign pemphigus from other forms of pemphigus.

Treatment[edit source | edit]

Topical steroid preparations often help outbreaks; use of the weakest corticosteroid that is effective is recommended to help prevent thinning of the skin. 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. Intracutaneous injections of botulinum toxin to inhibit perspiration may be of benefit.^[6] Maintaining a healthy weight, avoiding heat and friction of affected areas, and keeping the area clean and dry may help prevent flares.

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[edit source | edit]

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ 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:10.1038/71701. PMID 10615129.
^ Carpenter, Teresa; Merchant, Farrukh (November 2008), "Familial benign pemphigus", Consultant 48 (12)

External links[edit source | edit]

Hailey-Hailey Disease Society

UpToDate Contents

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1. ヘイリー・ヘイリー病（良性家族性天疱瘡） hailey hailey disease benign familial pemphigus
2. グローバー病（一過性および持続性棘融解性皮膚症） grovers disease transient and persistent acantholytic dermatosis
3. ダリエ病 darier disease
4. 外陰部病変：形態に基づく鑑別診断 vulvar lesions differential diagnosis based on morphology
5. 皮膚の水疱を有する患者に対するアプローチ approach to the patient with cutaneous blisters

English Journal

Botulinum Toxin A for the Treatment of Familial Benign Pemphigus.

López-Ferrer A, Alomar A.SourceServicio de Dermatología, Hospital de la Santa Creu i Sant Pau, Barcelona, España.
Actas dermo-sifiliograficas.Actas Dermosifiliogr.2012 Jul;103(6):532-535. Epub 2011 Aug 27.
Familial benign pemphigus or Hailey-Hailey disease is a rare bullous disease that presents clinically with recurrent flares of erosions and vesicles that mainly affect the skinfolds. Many topical and systemic therapies have been proposed. Hyperhidrosis is one of the factors that can trigger or aggra
PMID 21872830

Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease.

Pernet C, Bessis D, Savignac M, Tron E, Guillot B, Hovnanian A.SourceDepartment of Dermatology, St Eloi Hospital, 80 avenue A. Fliche, 34295 Montpellier Cedex 5, France University of Montpellier I, Montpellier, France INSERM U1058, Montpellier, France INSERM U563, Toulouse, F-31300 France Departments of Genetics and Dermatology, Necker Hospital for Sick Children, 149 rue de Sèvres, 75743 Paris Cedex 15, France INSERM U781, Paris, F-75015 France University Paris V René Descartes, Paris, F-75015 France.
The British journal of dermatology.Br J Dermatol.2012 Jul;167(1):210-212. doi: 10.1111/j.1365-2133.2012.10810.x.
PMID 22229453