関: Hailey-Hailey disease

WordNet

not dangerous to health; not recurrent or progressive (especially of a tumor)
pleasant and beneficial in nature or influence; "a benign smile"; "the benign sky"; "the benign influence of pure air" (同)benignant
kindness of disposition or manner; "the benign ruler of millions"; "benign intentions"
relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
a skin disease characterized by large thin-walled blisters (bullae) arising from normal skin or mucous membrane

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(心・表情などが)親切な,優しい / (事情・環境・気候などが)好適な,好都合な / 悪性でない
家族の,家族特有の / 違伝的な,血統にあらわれる

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/28 10:47:14」(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

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

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

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

^ 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

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. ダリエ病 darier disease
3. 外陰部病変の鑑別診断 differential diagnosis of vulvar lesions
4. カンジダ性間擦疹 candidal intertrigo
5. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療 photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment

English Journal

Hailey-hailey disease responding to thalidomide.

Nanda KB, Saldanha CS, Jacintha M, Kamath G.
Indian journal of dermatology.Indian J Dermatol.2014 Mar;59(2):190-2. doi: 10.4103/0019-5154.127684.
Familial benign chronic pemphigus or Hailey-Hailey disease (HHD) is a rare autosomal dominant disorder characterized by the development of recurrent blisters and erosions in the intertriginous areas. Various topical and systemic treatment options include corticosteroids, topical 5-fluorouracil, topi
PMID 24700941

Familial benign chronic pemphigus and doxycycline: a review of 6 cases.

Le Saché-de Peufeilhoux L1, Raynaud E, Bouchardeau A, Fraitag S, Bodemer C.
Journal of the European Academy of Dermatology and Venereology : JEADV.J Eur Acad Dermatol Venereol.2014 Mar;28(3):370-3. doi: 10.1111/jdv.12016. Epub 2012 Oct 27.
BACKGROUND: Hailey-Hailey disease (HHD) or familial benign chronic pemphigus is a rare autosomal dominant inherited skin disorder, characterized by flaccid vesicles and erosions on the intertriginous areas. Current treatments are not particularly effective. We report 6 cases dramatically improving w
PMID 23106313

Reflectance confocal microscopy as a non-invasive diagnostic tool for Hailey-Hailey disease.

Kurzeja M1, Czuwara J, Rakowska A, Sicińska J, Maj M, Nasierowska-Guttmejer A, Rudnicka L, Olszewska M.
Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI).Skin Res Technol.2014 Feb 17. doi: 10.1111/srt.12146. [Epub ahead of print]
BACKGROUND/PURPOSE: Reflectance confocal microscopy (RCM) is a non-invasive method for high-resolution, in vivo imaging of the epidermis and upper dermis. The purpose of the study was to evaluate the potential usefulness of RCM as a non-invasive diagnostic tool for Hailey-Hailey disease (familial be
PMID 24528151

Japanese Journal

Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease : Six new mutations in the ATP2C1 gene

HAMADA Takahiro,FUKUDA Shunpei,SAKAGUCHI Sachiko,YASUMOTO Shinichiro,KIM Soo-Chan,HASHIMOTO Takashi
Journal of dermatological science 51(1), 31-36, 2008-07-01
NAID 10024119371