Hailey-Hailey Disease Masquerading as Condyloma Acuminatum-Case Report and Novel Mutation Analysis

家族良性慢性天疱瘡亦稱為Hailey-Hailey氏病，首先由Hailey氏兄弟所提出。此體染色體顯性遺傳疾病主要特徵是在頸部，鼠蹊部及腋下出現反覆發作的水泡。病理組織下在表皮的基底層上方細胞間可見棘層分解現象(acantholysis)。近年來發現的ATP2C1基因，一種新的P型鈣離子傳送腺三磷酸酶的突變，為Hailey-Hailey氏病的致病因。本篇報告一個29歲男性患者，在近一年多來於肛門及其週圍有疣狀增生物，併有搔癢及疼痛的情形，經私人診所診斷為尖圭濕疣並接受各種治療，但效果不佳。病灶切片病理檢查見到在基底層上方細胞有棘層分解現象，診斷為Hailey-Hailey氏病。病患全身無其他病灶亦無家族史。基因突變分析發現一新的五個核苷酸的插入性突變。

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並列摘要

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(superscript 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).

並列關鍵字

Hailey-Hailey disease (HHD) ； Familial benign chronic pemphigus ； ATP2C1 gene ； Condyloma

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Hailey-Hailey Disease Masquerading as Condyloma Acuminatum-Case Report and Novel Mutation Analysis

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