Treatment of the Vulva Lesion by Carbon Dioxide Laser and Mutation Analysis of ATP2C1 Gene in a Patient with Hailey-Hailey Disease

Hailey-Hailey Disease患者會陰部病灶之二氧化碳雷射治療經驗及ATP2C1基因突變研究

蔡雅敏(Ya-Ming Tsai) ； 楊美惠(Mei-Hui Yang) ； 趙曉秋(Sheau-Chiou Chao)

《中華皮膚科醫學雜誌》 20卷4期 (2002/12) Pp. 324-328

摘要

一位37歲女性於一個月前在會陰部出現會癢之角化性丘疹，臨床診斷為尖端濕疣。在其腹股溝及腋下有典型Hailey-Hailey disease (HHD)的病灶已四至五年。會陰部病灶切片的組織病理顯示基底細胞上之表皮細胞分解(崩落的磚牆)：人類孚突狀病毒染色陰性。以二氧化碳雷射治療位於會陰部之病灶，追蹤五個月並無復發之情形。我們回顧有關HHD病灶位於會陰部之報告及以二氧化碳雷射治療之文獻。此外，最近之研究顯示ATP2C1 gene發生突變為造成HHD的原因，此基因轉譯一鈣離子幫浦。在此病例，我們發現一個21鹼基對的缺失突變。

並列摘要

A 37 year-old woman suffered from pruritic, keratotic papules over the vulva for 1 month and condylomata acuminate was clinical suspected. Typical lesions of Hailey-Hailey disease (HHD) in the liguinal areas and axillae were noted and diagnosed about 4 to 5 years ago. Microscopic studies revealed suprabasal acantholysis (“dilapidated brick wall”) from the vulva lesion. A Human papillo-mavirus stain was negative. The vulva lesion was treated by carbon dioxide (CO2) laser vaporization, and no recurrence occurred at a follow-up evaluation 5 months later. Besides, recent studies revealed that HHD is cause by mutations in the ATP2C1 gene that encodes a Ca2+ pump. We perform mutation analysis and find a 21 bp deletion mutation in ATP2C1 gene.

並列關鍵字

Hailey-Hailey disease ； Familial benign chronic pemphigus ； vulva ； Carbon dioxide laser ； ATP2C1 gene