Hailey–Hailey disease

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Hailey–Hailey disease
Other namesFamilial benign chronic pemphigus
Left axilla mild, uninfected Hailey–Hailey lesion
SpecialtyMedical genetics Edit this on Wikidata
SymptomsRashes and blisters on the skin, could be painful to the touch with a possibility of acantholysis, erythema and hyperkeratosis.
Usual onsetLate teenage years or 30s-40s
DurationChronic
CausesMutations in the ATP2C1 gene
Risk factorsFamily history
Named afterHugh Edward Hailey and William Howard Hailey

Hailey–Hailey disease (HHD), 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.

Signs and symptoms

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] It typically begins in late teenage years or in a person's 30s or 40s. [6]

Causes

The cause of the disease is a haploinsufficiency of the enzyme ATP2C1;[7] 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

Classification

While the term pemphigus typically refers to "a rare group of blistering autoimmune diseases" affecting "the skin and mucous membranes",[8] Hailey–Hailey disease is not an autoimmune disorder and there are no autoantibodies.[9] According to Pemphigus Pemphigoid Foundation (IPPF), "familial benign chronic pemphigus, or Hailey–Hailey disease, is a different condition from Pemphigus".[10]

Differential diagnosis

The differential diagnosis includes intertrigo, candidiasis, frictional or contact dermatitis, and inverse psoriasis.[11] A biopsy and/or family history can confirm.[12] The lack of oral lesions and intercellular antibodies distinguishes familial benign pemphigus from other forms of pemphigus.[citation needed]

Treatment

Topical steroid preparations often help outbreaks; use of the weakest

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.[13] 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.[14][15]

See also

  • List of cutaneous conditions

References

  1. ISBN 978-0-7216-2921-6
    .
  2. ISBN 978-0-07-138076-8
    .
  3. Who Named It?
  4. doi:10.1001/archderm.1939.01480220064005
    .
  5. ^ "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.
  6. PMID 36256785
    , retrieved 2023-11-07
  7. S2CID 41274246
    .
  8. PMID 14510878
    .
  9. ^ Mauro T. "Hailey–Hailey Disease". National Organization for Rare Disorders. Retrieved 29 October 2015.
  10. ^ "Pemphigus". Pemphigus Pemphigold Foundation. 2014-03-19. Retrieved 29 October 2015.
  11. ^ Foundation, British Skin. "Hailey–Hailey disease – British Skin Foundation". knowyourskin.britishskinfoundation.org.uk. Retrieved 2023-09-14.
  12. PMID 29236657.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: numeric names: authors list (link
    )
  13. ^ Carpenter T, Merchant F (November 2008). "Familial benign pemphigus". Consultant. 48 (12).
  14. PMID 28768314
    .
  15. PMID 28768313
    .

External links
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