" /> Hailey-hailey disease - CISMeF





Preferred Label : Hailey-hailey disease;

Symbol : HHD;

CISMeF acronym : HHD; BCPM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BCPM; Benign chronic pemphigus; Pemphigus, benign familial;

Description : Recurrent eruption of vesicles and bullae involving predominantly the neck, groin, and axillary regions is characteristic of this disorder. Histologic examination shows numerous acantholytic cells and the suprabasal type of blister formation strikingly resembling that in pemphigus vulgaris malignus. This disorder, which appears to represent a defect in keratinocyte cohesion, was first described by the dermatologist brothers Hailey and Hailey (1939).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Ca(2 )-transporting, type 2C, member 1 gene (ATP2C1, 604384.0001);

Prefixed ID : #169600;

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01/05/2025


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