Familial benign chronic pemphigus, (Hailey-Hailey disease, HHD, OMIM 169600), first described by Hailey brothers, is an autosomal dominant inherited skin disorder characterized by recurrent blistering predominantly over neck, groin and axillary areas. Histopathologically, defects in cell-to-cell adhesion in suprabasal layers of the epidermis (acantholysis) are characterized. Mutation in ATP2C1, the gene encoding a novel P-type Ca 2+ -transport ATPase, was recently found to cause Hailey-Hailey disease. Here we presented a 29-year-old male patient who suffered a verrucous plaque over anal orifice and perianal area with pruritus and mild painful sensation for more than one year. Condyloma acuminata was diagnosed at private clinics and different kinds of therapies were applied but in vain. Histopathology showed suprabasal cleft with extensive acantholysis, indicating "Hailey-Hailey disease". No other skin lesions and no family history were contributed. Mutation analysis of ATP2C1 gene revealed a novel insertion mutation (1230insACACA).
|頁（從 - 到）||101-104|
|出版狀態||Published - 2005 六月|
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