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Multiple cutaneous and uterine leiomyomatosis in a 36-year-old female, and discussion of hereditary leiomyomatosis and renal cell carcinoma

机译:一名36岁女性的多发性皮肤和子宫平滑肌瘤病,以及遗传性平滑肌瘤病和肾细胞癌的讨论

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摘要

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC), also known as Reed's syndrome, is a rare but important syndrome that should be recognized, and those families affected by it should be counseled, as it is secondary to a genetic mutation that will affect future generations. A 36-year-old Caucasian female presented to the Dermatology Department of the Naval Medical Center San Diego in June 2009. One year prior to presentation, the patient had a sudden eruption of at least twenty superficial pink-brown papules extending across her back, shoulders, and upper arms which were mildly tender when rubbed (see Figs. 1 and 2). A review of systems was non-contributory, and her past medical history was negative for skin cancers. The patient's past surgical history revealed that she had undergone a hysterectomy at age 28 years for multiple leiomyomas. A thorough review of her family history was significant for her mother's having undergone a hysterectomy at age 21 years and having been diagnosed with metastatic renal cell carcinoma at age 42 years. The patient's brother, her only sibling, has no skin manifestations or history of kidney disease. She has a healthy 7-year-old daughter.
机译:遗传性平滑肌瘤病和肾细胞癌(HLRCC),也称为里德氏综合症,是一种罕见但重要的综合症,应予以认识,并应向受其影响的家庭提供咨询,因为它是继发于会影响子孙后代的遗传突变的继发者。一位36岁的白种女性于2009年6月向圣地亚哥海军医学中心皮肤病科就诊。就诊前一年,该患者突然喷发了至少二十个浅粉红色丘疹,遍布她的背部,肩膀和上臂在摩擦时略微柔软(见图1和2)。对系统的评论是无贡献的,她过去的病史对皮肤癌不利。患者过去的外科手术历史表明,她在28岁时因多发性平滑肌瘤接受了子宫切除术。对母亲的家族史进行彻底检查对于她的母亲在21岁时进行了子宫切除术并且在42岁时被诊断出患有转移性肾细胞癌具有重要意义。患者的兄弟是她唯一的兄弟姐妹,没有皮肤表现或肾脏疾病史。她有一个健康的7岁女儿。

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