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.
Right armpit skin affected during Hailey-Hailey disease flare
HHD is characterized by outbreaks of rashes and blisters on the skin. Affected areas of skin undergo repeated blistering and inflammation, and may be painful to the touch. Areas where the skin folds, as well as the armpits, groin, neck, buttocks and under the breasts are most commonly affected. In addition to blistering, other symptoms which accompany HHD include acantholysis, erythema and hyperkeratosis.[5]
CausesEdit
The cause of the disease is a haploinsufficiency of the enzyme ATP2C1;[6] 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.[citation needed]
DiagnosisEdit
ClassificationEdit
While the term pemphigus typically refers to "a rare group of blistering autoimmune diseases" affecting "the skin and mucous membranes",[7] Hailey–Hailey disease is not an autoimmune disorder and there are no autoantibodies.[8] According to Pemphigus Pemphigoid Foundation (IPPF), "familial benign chronic pemphigus, or Hailey-Hailey disease, is a different condition from Pemphigus".[9]
Differential diagnosisEdit
The differential diagnosis includes intertrigo, candidiasis, frictional or contact dermatitis, and inverse psoriasis. 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.[citation needed]
TreatmentEdit
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.[10] Maintaining a healthy weight, avoiding heat and friction of affected areas, and keeping the area clean and dry may help prevent flares.[citation needed]
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.[citation needed]Secondary bacterial, fungal and/or viral infections are common and may exacerbate an outbreak. Some have found that outbreaks are triggered by certain foods, hormone cycles and stress.
In many cases naltrexone, taken daily in low doses, appears to help.[11][12]
^James WD, Berger T, Elston D (2006). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Philadelphia: Saunders Elsevier. ISBN978-0-7216-2921-6.
^Freedberg IM, Eisen IZ, Wolff K, Austen F, Goldsmith LA, Katz S (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). New York: McGraw-Hill, Medical Pub. Division. ISBN978-0-07-138076-8.
^Hailey H, Hailey H (April 1939). "Familial benign chronic pemphigus". Archives of Dermatology and Syphilology. 39 (4): 679–685. doi:10.1001/archderm.1939.01480220064005.
^. Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. National Institutes of Health, U.S. Department of Health and Human Services. Archived from the original on 2021-03-18. Retrieved 2021-03-21.
^Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. (January 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nature Genetics. 24 (1): 61–65. doi:10.1038/71701. PMID 10615129. S2CID 41274246.
^Yeh SW, Ahmed B, Sami N, Razzaque Ahmed A (September 2003). "Blistering disorders: diagnosis and treatment". Dermatologic Therapy. 16 (3): 214–223. doi:10.1046/j.1529-8019.2003.01631.x. PMID 14510878.
^Mauro T. "Hailey-Hailey Disease". National Organization for Rare Disorders. Retrieved 29 October 2015.
^"Pemphigus". Pemphigus Pemphigold Foundation. 2014-03-19. Retrieved 29 October 2015.
hailey, hailey, disease, familial, benign, chronic, pemphigus, familial, benign, pemphigus, originally, described, hailey, brothers, hugh, edward, william, howard, 1939, genetic, disorder, that, causes, blisters, form, skin, hailey, hailey, diseaseother, names. 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 Hailey Hailey diseaseOther namesFamilial benign chronic pemphigusSpecialtyMedical genetics Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 3 1 Classification 3 2 Differential diagnosis 4 Treatment 5 See also 6 References 7 External linksSigns and symptoms Edit nbsp Right armpit skin affected during Hailey Hailey disease flareHHD is characterized by outbreaks of rashes and blisters on the skin Affected areas of skin undergo repeated blistering and inflammation and may be painful to the touch Areas where the skin folds as well as the armpits groin neck buttocks and under the breasts are most commonly affected In addition to blistering other symptoms which accompany HHD include acantholysis erythema and hyperkeratosis 5 Causes EditThe cause of the disease is a haploinsufficiency of the enzyme ATP2C1 6 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 citation needed Diagnosis EditClassification Edit While the term pemphigus typically refers to a rare group of blistering autoimmune diseases affecting the skin and mucous membranes 7 Hailey Hailey disease is not an autoimmune disorder and there are no autoantibodies 8 According to Pemphigus Pemphigoid Foundation IPPF familial benign chronic pemphigus or Hailey Hailey disease is a different condition from Pemphigus 9 Differential diagnosis Edit The differential diagnosis includes intertrigo candidiasis frictional or contact dermatitis and inverse psoriasis 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 citation needed Treatment EditTopical 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 10 Maintaining a healthy weight avoiding heat and friction of affected areas and keeping the area clean and dry may help prevent flares citation needed 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 citation needed Secondary bacterial fungal and or viral infections are common and may exacerbate an outbreak Some have found that outbreaks are triggered by certain foods hormone cycles and stress In many cases naltrexone taken daily in low doses appears to help 11 12 See also EditList of cutaneous conditionsReferences Edit James WD Berger T Elston D 2006 Andrews Diseases of the Skin Clinical Dermatology 10th ed Philadelphia Saunders Elsevier ISBN 978 0 7216 2921 6 Freedberg IM Eisen IZ Wolff K Austen F Goldsmith LA Katz S 2003 Fitzpatrick s Dermatology in General Medicine 6th ed New York McGraw Hill Medical Pub Division ISBN 978 0 07 138076 8 Gougerot Hailey Hailey disease at Who Named It Hailey H Hailey H April 1939 Familial benign chronic pemphigus Archives of Dermatology and Syphilology 39 4 679 685 doi 10 1001 archderm 1939 01480220064005 Hailey Hailey disease Genetic and Rare Diseases Information Center GARD an NCATS Program National Institutes of Health U S Department of Health and Human Services Archived from the original on 2021 03 18 Retrieved 2021 03 21 Hu Z Bonifas JM Beech J Bench G Shigihara T Ogawa H et al January 2000 Mutations in ATP2C1 encoding a calcium pump cause Hailey Hailey disease Nature Genetics 24 1 61 65 doi 10 1038 71701 PMID 10615129 S2CID 41274246 Yeh SW Ahmed B Sami N Razzaque Ahmed A September 2003 Blistering disorders diagnosis and treatment Dermatologic Therapy 16 3 214 223 doi 10 1046 j 1529 8019 2003 01631 x PMID 14510878 Mauro T Hailey Hailey Disease National Organization for Rare Disorders Retrieved 29 October 2015 Pemphigus Pemphigus Pemphigold Foundation 2014 03 19 Retrieved 29 October 2015 Carpenter T Merchant F November 2008 Familial benign pemphigus Consultant 48 12 Ibrahim O Hogan SR Vij A Fernandez AP October 2017 Low Dose Naltrexone Treatment of Familial Benign Pemphigus Hailey Hailey Disease JAMA Dermatology 153 10 1015 1017 doi 10 1001 jamadermatol 2017 2445 PMC 5817587 PMID 28768314 Albers LN Arbiser JL Feldman RJ October 2017 Treatment of Hailey Hailey Disease With Low Dose Naltrexone JAMA Dermatology 153 10 1018 1020 doi 10 1001 jamadermatol 2017 2446 PMC 5817589 PMID 28768313 External links Edit Retrieved from https en wikipedia org w index php title Hailey Hailey disease amp oldid 1167188932, wikipedia, wiki, book, books, library,
