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多囊性疾病:角蛋白17功能障碍?

Multiple cystic disease: K17 dysfunction?

作者信息

Néstor Cabrera Hugo, Hermida María Daniela, Griffa Elba, Civitillo Claudia, Porta José

机构信息

Dermatology Department, Hospital Nacional Profesor Alejandro Posadas, Buenos Aires, Argentina.

出版信息

Skinmed. 2013 Sep-Oct;11(5):301-3.

PMID:24340472
Abstract

Our patient is a 29-year-old woman without any previous disease who presented with different kinds of lesions on her face, neck, and chest. She first noticed the lesions 10 years ago and, since that time, they have become more numerous. She has no affected relatives. On physical examination, she had multiple cystic lesions on her neck, chest, and vulva, which were between 0.3 cm and 1 cm and skin-colored or yellowish (Figure 1). She presented with small, white papules on her face measuring approximately 0.2 cm, localized on her forehead and cheeks. Some of these papules had a blueish appearance (Figure 2). She also presented clinically typical eruptive syringomas on her upper and lower eyelids and neck and multiple facial milia. Finally, a sacrococcygeal pilonidal cyst was diagnosed and surgically removed. Her nails and teeth were clinically normal. Biopsies of each kind of lesion were performed, with the following results: (1) neck cystic lesion: steatocystoma; (2) small, white facial papule: eccrine hidrocystoma; (3) blueish facial papule: apocrine hidrocystoma; and (4) small neck papule: syringoma (Figure 3). With these findings, our diagnosis was steatocystoma multiplex with multiple eccrine and apocrine hidrocystomas, eruptive syringomas, and sacrococcygeal pilonidal cyst.

摘要

我们的患者是一名29岁的女性,既往无任何疾病,面部、颈部和胸部出现了各种皮损。她10年前首次注意到这些皮损,从那时起,皮损数量增多。她没有患病的亲属。体格检查发现,她的颈部、胸部和外阴有多个囊性皮损,大小在0.3厘米至1厘米之间,肤色或淡黄色(图1)。她的面部有一些约0.2厘米大小的白色小丘疹,位于前额和脸颊。其中一些丘疹呈蓝色外观(图2)。她的上下眼睑、颈部还有临床上典型的发疹性汗管瘤以及多个面部粟丘疹。最后,诊断出一个骶尾部藏毛囊肿并进行了手术切除。她的指甲和牙齿在临床上正常。对每种皮损进行了活检,结果如下:(1)颈部囊性皮损:皮脂腺囊肿;(2)面部白色小丘疹:小汗腺汗囊肿;(3)面部蓝色丘疹:大汗腺汗囊肿;(4)颈部小丘疹:汗管瘤(图3)。根据这些发现,我们的诊断是多发性皮脂腺囊肿伴多发性小汗腺和大汗腺汗囊肿、发疹性汗管瘤以及骶尾部藏毛囊肿。

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Multiple cystic disease: K17 dysfunction?多囊性疾病:角蛋白17功能障碍?
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2
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex.家族性汗管瘤:两例报告并结合已发表文献综述及与多发性皮脂囊肿的独特关联
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Hereditary syringomas: a case report.遗传性汗管瘤:一例报告
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