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Familial benign pemphigus(HHD)

MedGen UID:
43100
Concept ID:
C0085106
Disease or Syndrome
Synonyms: Benign Chronic Pemphigus; Hailey Hailey disease; HHD
SNOMED CT: Benign familial chronic pemphigus (79468000); Familial benign pemphigus (79468000); Hailey-Hailey disease (79468000); Familial benign chronic pemphigus (79468000); Hailey Hailey disease (79468000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ATP2C1 (3q22.1)
 
Monarch Initiative: MONDO:0008218
OMIM®: 169600
Orphanet: ORPHA2841

Definition

Hailey-Hailey disease (HHD), also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004). This disorder was first described by the dermatologist brothers Hailey and Hailey in 1939 (see Michel, 1982). [from OMIM]

Additional description

From MedlinePlus Genetics
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.

The severity of Hailey-Hailey disease varies from relatively mild episodes of skin irritation to widespread, persistent areas of raw and blistered skin that interfere with daily activities. Affected skin may become infected with bacteria or fungi, leading to pain and odor. Although the condition is described as "benign" (noncancerous), in rare cases the skin lesions may develop into a form of skin cancer called squamous cell carcinoma.

Many affected individuals also have white lines running the length of their fingernails. These lines do not cause any problems, but they can be useful for diagnosing Hailey-Hailey disease.  https://medlineplus.gov/genetics/condition/hailey-hailey-disease

Clinical features

From HPO
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial benign pemphigus
Follow this link to review classifications for Familial benign pemphigus in Orphanet.

Professional guidelines

PubMed

Adamson SR, Higgins CL, Veysey E
Br J Dermatol 2023 Jul 17;189(2):232-234. doi: 10.1093/bjd/ljad101. PMID: 37002729
Pretel-Irazabal M, Lera-Imbuluzqueta JM, España-Alonso A
Actas Dermosifiliogr 2013 May;104(4):325-33. Epub 2013 Apr 11 doi: 10.1016/j.adengl.2013.03.004. PMID: 23582735

Recent clinical studies

Etiology

Ibrahim O, Hogan SR, Vij A, Fernandez AP
JAMA Dermatol 2017 Oct 1;153(10):1015-1017. doi: 10.1001/jamadermatol.2017.2445. PMID: 28768314Free PMC Article
CULLEN DR
Br J Dermatol 1965 Jan;77:20-3. doi: 10.1111/j.1365-2133.1965.tb14561.x. PMID: 14252679

Diagnosis

Ibrahim O, Hogan SR, Vij A, Fernandez AP
JAMA Dermatol 2017 Oct 1;153(10):1015-1017. doi: 10.1001/jamadermatol.2017.2445. PMID: 28768314Free PMC Article
Kumar R, Zawar V
Dermatol Online J 2008 Mar 15;14(3):17. PMID: 18627718
Fisher GH, Geronemus RG
Dermatol Surg 2006 Jul;32(7):966-8. doi: 10.1111/j.1524-4725.2006.32205.x. PMID: 16875483
Gallagher TC
Dermatol Online J 2000 Sep;6(1):7. PMID: 11328617
Sehgal VN, Jain S
J Dermatol 1994 Jun;21(6):382-8. doi: 10.1111/j.1346-8138.1994.tb01759.x. PMID: 8064000

Therapy

Sousa Gomes M, Araújo Pereira J, Trocado V, Prata JP, Teixeira V, Pinheiro P
Arch Gynecol Obstet 2020 Nov;302(5):1081-1086. Epub 2020 Aug 10 doi: 10.1007/s00404-020-05705-0. PMID: 32776297
Malan M, Xuejingzi W, Si J, Quan SJ
Pan Afr Med J 2019;32:65. Epub 2019 Feb 5 doi: 10.11604/pamj.2019.32.65.17877. PMID: 31223357Free PMC Article
Ibrahim O, Hogan SR, Vij A, Fernandez AP
JAMA Dermatol 2017 Oct 1;153(10):1015-1017. doi: 10.1001/jamadermatol.2017.2445. PMID: 28768314Free PMC Article
Bansal C, Omlin KJ, Hayes CM, Rohrer TE
J Cosmet Dermatol 2006 Sep;5(3):268-72. doi: 10.1111/j.1473-2165.2006.00255.x. PMID: 17177750
Ruiz-Rodriguez R, Alvarez JG, Jaén P, Acevedo A, Córdoba S
J Am Acad Dermatol 2002 Nov;47(5):740-2. doi: 10.1067/mjd.2002.124802. PMID: 12399767

Prognosis

Tansini PB, Boff AL, Weber MB, Bonamigo RR
An Bras Dermatol 2020 Jan-Feb;95(1):75-77. Epub 2019 Nov 25 doi: 10.1016/j.abd.2019.02.006. PMID: 31959512Free PMC Article
Tang MB, Tan ES
J Dermatolog Treat 2011 Oct;22(5):304-5. Epub 2010 Aug 1 doi: 10.3109/09546631003762670. PMID: 20673150

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