Hailey-Hailey disease masquerading as condyloma acuminatum - Case report and novel mutation analysis

Yi Chen Liao, J. Yu Yun Lee, Sheau Chiou Chao, Ming Yu Lee, Ho Hsing Chang

研究成果: Article同行評審

1 引文 斯高帕斯(Scopus)

摘要

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).

原文English
頁(從 - 到)101-104
頁數4
期刊Dermatologica Sinica
23
發行號2
出版狀態Published - 2005 六月

All Science Journal Classification (ASJC) codes

  • 皮膚科

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