与克莱恩费尔特氏综合征相关的腿部溃疡：病例报告及文献复习。
Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature.
机构信息
Division of Rheumatology, Immunology and Allergy, Georgetown University Hospital, Washington, DC, USA.
出版信息
Int Wound J. 2012 Feb;9(1):104-7. doi: 10.1111/j.1742-481X.2011.00846.x. Epub 2011 Aug 19.
Abstract
We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter's syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter's syndrome. The pathogenesis of ulcers in this endocrinopathy is unclear, but associations with abnormalities of fibrinolysis and prothrombotic states are reported. This case emphasises the importance of considering Klinefelter's syndrome in the differential diagnosis of a sterile male patient with non healing lower extremity ulcers.
摘要
我们报告了一例患有 II 型糖尿病、III 期慢性肾脏病、高血压、阻塞性睡眠呼吸暂停和糖尿病的年轻男性，他因难治性下肢溃疡到乔治敦大学医院创伤愈合中心就诊。自身免疫检查结果为阴性。然而，染色体分析显示存在克莱恩费尔特综合征（48 XXYY）的遗传变异。下肢溃疡是克莱恩费尔特综合征的一种公认并发症。这种内分泌疾病中溃疡的发病机制尚不清楚，但据报道与纤维蛋白溶解异常和血栓前状态有关。本病例强调了在诊断患有非愈合性下肢溃疡的无菌男性患者时，考虑克莱恩费尔特综合征的重要性。
相似文献
1
Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature.与克莱恩费尔特氏综合征相关的腿部溃疡：病例报告及文献复习。
Int Wound J. 2012 Feb;9(1):104-7. doi: 10.1111/j.1742-481X.2011.00846.x. Epub 2011 Aug 19.
2
Leg ulcers in Klinefelter's syndrome--further evidence for an involvement of plasminogen activator inhibitor-1.克兰费尔特综合征中的腿部溃疡——纤溶酶原激活物抑制剂-1参与其中的进一步证据
Br J Dermatol. 1997 Mar;136(3):341-4.
3
Platelet hyperaggregability in a patient with Klinefelter's syndrome and leg ulcers.
Br J Dermatol. 1987 Jul;117(1):107-9. doi: 10.1111/j.1365-2133.1987.tb04098.x.
4
[Klinefelter's syndrome and leg ulcers: role of blood coagulation disorders].[克兰费尔特综合征与腿部溃疡：凝血功能障碍的作用]
Ann Dermatol Venereol. 1992;119(12):951-7.
5
Leg ulcers and Klinefelter's syndrome.腿部溃疡与克兰费尔特综合征。
Arch Dermatol. 1995 Aug;131(8):958-9. doi: 10.1001/archderm.131.8.958.
6
Chronic leg ulcers and Klinefelter's syndrome.慢性腿部溃疡与克兰费尔特综合征
Cutis. 1986 Aug;38(2):110-1.
7
[Leg ulcers with hyperpigmented maculae and white atrophy as manifestation of Klinefelter syndrome].[以色素沉着性斑和白色萎缩为表现的克氏综合征所致腿部溃疡]
Ned Tijdschr Geneeskd. 1994 Jan 8;138(2):86-9.
8
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome.
Clin Genet. 1990 Jul;38(1):74-8. doi: 10.1111/j.1399-0004.1990.tb03550.x.
9
Leg ulcer in Klinefelter's syndrome.克兰费尔特综合征中的腿部溃疡。
J Eur Acad Dermatol Venereol. 2003 Jan;17(1):62-4. doi: 10.1046/j.1468-3083.2003.t01-1-00511.x.
10
Increased plasma activity of plasminogen activator inhibitor 1 (PAI-1) in two patients with Klinefelter's syndrome complicated by leg ulcers.
Br J Dermatol. 1994 May;130(5):641-4. doi: 10.1111/j.1365-2133.1994.tb13112.x.
引用本文的文献
1
X-inactive-specific transcript: a long noncoding RNA with a complex role in sex differences in human disease.X染色体失活特异性转录本：一种在人类疾病性别差异中具有复杂作用的长链非编码RNA。
Biol Sex Differ. 2024 Dec 5;15(1):101. doi: 10.1186/s13293-024-00681-5.
2
The Histopathology of Leg Ulcers.腿部溃疡的组织病理学
Dermatopathology (Basel). 2024 Jan 29;11(1):62-78. doi: 10.3390/dermatopathology11010007.
3
Dermatologic care of patients with differences of sex development.性发育差异患者的皮肤病护理
Int J Womens Dermatol. 2023 Sep 5;9(3):e106. doi: 10.1097/JW9.0000000000000106. eCollection 2023 Oct.
4
Multifactorial sleep disturbance in Klinefelter syndrome: a case report.克兰费尔特综合征的多因素睡眠障碍：一例报告
Transl Androl Urol. 2023 Jul 31;12(7):1204-1210. doi: 10.21037/tau-22-587. Epub 2023 Jul 3.
5
Chronic Venous Leg Ulcer in Klinefelter Syndrome Treated with Platelet-Rich Fibrin: A Case Report.富血小板纤维蛋白治疗克兰费尔特综合征慢性下肢静脉溃疡：一例报告
Int Med Case Rep J. 2021 Nov 25;14:809-814. doi: 10.2147/IMCRJ.S337738. eCollection 2021.
6
Sleep Apnea and Skin.睡眠呼吸暂停与皮肤
Curr Sleep Med Rep. 2020 Sep;6(3):94-100. doi: 10.1007/s40675-020-00179-7. Epub 2020 Aug 25.
7
Procoagulant Imbalance in Klinefelter Syndrome Assessed by Thrombin Generation Assay and Whole-Blood Thromboelastometry.通过血栓生成试验和全血血栓弹力描记法评估克氏综合征中的促凝失衡。
J Clin Endocrinol Metab. 2021 Mar 25;106(4):e1660-e1672. doi: 10.1210/clinem/dgaa936.
8
The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility.Y 染色体拷贝数、结构、行为和拷贝数变异（CNV）在男性不育症中的作用。
Genes (Basel). 2019 Dec 29;11(1):40. doi: 10.3390/genes11010040.
9
[Skin diseases and fertility/hormone disorders].[皮肤疾病与生育能力/激素紊乱]
Hautarzt. 2018 Dec;69(12):991-995. doi: 10.1007/s00105-018-4302-7.
10
The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome.PAI-1 基因变异和 PAI-1 血浆水平对 Klinefelter 综合征患者血栓形成倾向发展的影响。
Am J Mens Health. 2018 Nov;12(6):2152-2156. doi: 10.1177/1557988318801158.
本文引用的文献
1
Best practice wound care.最佳伤口护理实践。
Int Wound J. 2011 Apr;8(2):145-54. doi: 10.1111/j.1742-481X.2010.00761.x. Epub 2011 Jan 28.
2
Sex steroids as inflammatory regulators.性激素作为炎症调节因子。
J Steroid Biochem Mol Biol. 2010 May 31;120(2-3):105-15. doi: 10.1016/j.jsbmb.2009.12.015. Epub 2010 Jan 4.
3
5alpha-dihydrotestosterone (DHT) retards wound closure by inhibiting re-epithelialization.5α-二氢睾酮（DHT）通过抑制再上皮化来延缓伤口愈合。
J Pathol. 2009 Jan;217(1):73-82. doi: 10.1002/path.2444.
4
Klinefelter syndrome in clinical practice.临床实践中的克兰费尔特综合征
Nat Clin Pract Urol. 2007 Apr;4(4):192-204. doi: 10.1038/ncpuro0775.
5
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism.代谢综合征在克兰费尔特综合征中很常见，且与腹部肥胖和性腺功能减退有关。
Diabetes Care. 2006 Jul;29(7):1591-8. doi: 10.2337/dc06-0145.
6
Androgens modulate the inflammatory response during acute wound healing.雄激素可调节急性伤口愈合过程中的炎症反应。
J Cell Sci. 2006 Feb 15;119(Pt 4):722-32. doi: 10.1242/jcs.02786. Epub 2006 Jan 31.
7
Klinefelter's syndrome presenting with leg ulcers.以腿部溃疡为表现的克兰费尔特综合征。
Skinmed. 2004 Sep-Oct;3(5):274-8. doi: 10.1111/j.1540-9740.2004.03005.x.
8
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.克兰费尔特综合征的产前和产后患病率：一项全国性登记研究
J Clin Endocrinol Metab. 2003 Feb;88(2):622-6. doi: 10.1210/jc.2002-021491.
9
Long-term pharmacokinetics of transdermal testosterone gel in hypogonadal men.睾酮透皮凝胶在性腺功能减退男性中的长期药代动力学
J Clin Endocrinol Metab. 2000 Dec;85(12):4500-10. doi: 10.1210/jcem.85.12.7045.
10
Management of leg ulcers.腿部溃疡的管理
Postgrad Med J. 2000 Nov;76(901):674-82. doi: 10.1136/pmj.76.901.674.
Zotero 插件