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Familial benign pemphigus(BCPM)

MedGen UID:
43100
Concept ID:
C0085106
Disease or Syndrome
Synonyms: BCPM; Benign chronic pemphigus; Benign Chronic Pemphigus; Hailey Hailey disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
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 OMIM]

Additional description

From GHR
Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in adolescence or 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, hot weather, and ultraviolet (UV) radiation from the sun. 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.  http://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus

Clinical features

Acantholysis
MedGen UID:
1687
Concept ID:
C0000887
Finding
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Finding
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
skin bullae
MedGen UID:
451011
Concept ID:
C0241054
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Finding
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Abnormality of the oral cavity
MedGen UID:
871391
Concept ID:
C4025887
Finding
Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.

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

CULLEN DR
Br J Dermatol 1965 Jan;77:20-3. PMID: 14252679

Diagnosis

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

Awadalla F, Rosenbach A
J Cosmet Laser Ther 2011 Aug;13(4):191-2. Epub 2011 Jun 21 doi: 10.3109/14764172.2011.594062. [Epub ahead of print] PMID: 21692642
Tang MB, Tan ES
J Dermatolog Treat 2011 Oct;22(5):304-5. Epub 2010 Aug 1 doi: 10.3109/09546631003762670. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20673150

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