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Nail-Patella Syndrome: Clinical Clues for Making the Diagnosis

机译:钉子髌骨综合征:用于诊断的临床线索

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摘要

Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic triad of fingernail dysplasia, patellar absence/hypoplasia, and presence of iliac horns. We describe the various features of NPS, focusing on dermatologic and musculoskeletal findings. A 69-year-old man presented to the dermatology clinic for a routine skin cancer screening. Physical examination revealed hypoplastic fingernails with longitudinal ridging, splitting, and triangular lunulae; left patellar absence and right patellar hypoplasia; and bilateral iliac horns that had been present since birth. His medical history was remarkable for glaucoma, hypertension, osteoporosis, and chronic kidney disease. A detailed awareness of the classic findings of NPS can facilitate its early recognition and enable appropriate treatment and longterm screening.
机译:甲髌骨综合征(NPS)是一种稀有的常血剂质 - 优势障碍,其特征是指指甲发育不良,髌骨缺失/发育不全和髂喇叭的存在。 我们描述了NPS的各种特征,重点是皮肤病学和肌肉骨骼发现。 一个69岁的男子介绍了皮肤科诊所,用于常规皮肤癌症筛查。 体格检查显示纵向磨损,分裂和三角危险的假血管指甲; 左髌骨缺席和右髌骨发育不全; 和出生以来一直存在的双侧髂喇叭。 他的病史对于青光眼,高血压,骨质疏松症和慢性肾病具有显着性。 详细了解NPS的经典调查结果可以促进其早期识别,并实现适当的治疗和长期筛选。

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  • 来源
    《Cutis》 |2018年第2期|共4页
  • 作者单位

    Univ Miami Dept Dermatol &

    Cutaneous Surg Miller Sch Med Coral Gables FL 33124 USA;

    Univ Miami Dept Dermatol &

    Cutaneous Surg Miller Sch Med Coral Gables FL 33124 USA;

    Univ Miami Dept Dermatol &

    Cutaneous Surg Miller Sch Med Coral Gables FL 33124 USA;

    Florida State Univ Coll Med Tallahassee FL 32306 USA;

    Univ Miami Dept Dermatol &

    Cutaneous Surg Miller Sch Med Coral Gables FL 33124 USA;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 皮肤病学与性病学;
  • 关键词

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