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Familial benign pemphigus(BCPM)

MedGen UID:
43100
Concept ID:
C0085106
Disease or Syndrome
Synonyms: BCPM; Benign Chronic Pemphigus; Hailey Hailey disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Benign familial chronic pemphigus (79468000); Familial benign pemphigus (79468000); Hailey-Hailey disease (79468000); Familial benign chronic pemphigus (79468000); Hailey Hailey disease (79468000)
 
Gene (location): ATP2C1 (3q22.1)
OMIM®: 169600
Orphanet: ORPHA2841

Definition

Hailey-Hailey disease, 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 (1939). [from GTR]

Additional descriptions

From OMIM
Hailey-Hailey disease, 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 (1939).  http://www.omim.org/entry/169600
From GHR
Benign chronic pemphigus, often called Hailey-Hailey disease, 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 benign chronic pemphigus 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 benign chronic pemphigus.  https://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus

Clinical features

Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Red discoloration of the skin caused by infectious agents, inflammation, drug hypersensitivity, or underlying disease.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Red discoloration of the skin caused by infectious agents, inflammation, drug hypersensitivity, or underlying disease.
  • Abnormality of the cardiovascular system
  • Abnormality of the integument

Term Hierarchy

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

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: 28768314
CULLEN DR
Br J Dermatol 1965 Jan;77:20-3. 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: 28768314
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. PMID: 8064000

Therapy

Ibrahim O, Hogan SR, Vij A, Fernandez AP
JAMA Dermatol 2017 Oct 1;153(10):1015-1017. doi: 10.1001/jamadermatol.2017.2445. PMID: 28768314
Awadalla F, Rosenbach A
J Cosmet Laser Ther 2011 Aug;13(4):191-2. Epub 2011 Jun 21 doi: 10.3109/14764172.2011.594062. PMID: 21692642
Tang MB, Tan ES
J Dermatolog Treat 2011 Oct;22(5):304-5. Epub 2010 Aug 1 doi: 10.3109/09546631003762670. PMID: 20673150
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. PMID: 12399767

Prognosis

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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