Benign Chronic Pemphigus (HHD)

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OMIM 57 169600 Disease Ontology 12 DOID:0050429 ICD10 33 Q82.8 MeSH 44 D016506 NCIt 50 C82865 SNOMED-CT 68 79468000 Orphanet 59 ORPHA2841

UMLS via Orphanet 74 C0085106 ICD10 via Orphanet 34 Q82.8 MedGen 42 C0085106 KEGG 37 H00844 SNOMED-CT via HPO 69 263681008 26996000 396228006 399955009 20255002 238810007 247441003 271811009 444827008 70819003 86735004 43327007 441837004 93448009 more UMLS 73 C0085106

NIH Rare Diseases : ⁵³ Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares, and may include topical medication, laser, and other procedures.

MalaCards based summary : Benign Chronic Pemphigus, also known as hailey-hailey disease, is related to pemphigus and pemphigus vulgaris. An important gene associated with Benign Chronic Pemphigus is ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. The drugs Acetylcholine and Acetylcholine Release Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and liver, and related phenotypes are hyperkeratosis and erythema

Disease Ontology : ¹² A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has material basis in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.

Genetics Home Reference : ²⁵ 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.

OMIM : ⁵⁷ 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). (169600)

UniProtKB/Swiss-Prot : ⁷⁵ Hailey-Hailey disease: Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.

Wikipedia : ⁷⁶ Hailey�??Hailey disease, or familial benign chronic pemphigus or familial benign pemphigus, was... more...

Clinical features from OMIM:

169600

Search NIH Clinical Center for Benign Chronic Pemphigus

Search GEO for disease gene expression data for Benign Chronic Pemphigus.