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青年男性颜面和四肢远端萎缩伴皮肤变硬革化15年——成人早老症
作者: 邹克季、朱敏、洪道俊
单位:南昌大学第一附属医院神经科 南昌330006
关键词:
分类号:R596
出版年·卷·期(页码):2020·46·第 8 期(509-512)
摘要:
1 临床资料 患者男,22岁,因"颜面和四肢远端萎缩伴皮肤变硬革化15年"于2019年5月9日就诊于我院. 患者自7 岁左右开始逐渐出现颜面部,主要为双眼周围和双侧颞部,以及耳根部皮肤粗糙,眼角有放射状皮肤皱纹,伴随皮肤脱屑,局部轻度色素沉着.约数个月后发现四肢远端皮肤粗糙,逐渐发展为远端肢体变硬萎缩,向近心端发展,目前表现为肘部及膝部以远的肢体萎缩变细,局部轻度色素沉着和脱屑,且皮肤干燥无汗.症状持续进展,无缓解复发,无肢体无力,无感觉障碍,无发热,无眼干和口干,无皮疹,无肌肉关节肿痛,无肢体僵硬.曾在当地医院多次就诊,未予特殊治疗,因不影响日常生活,患者一直没有重视上述症状,近期因找女朋友,女方说"肢体像老人家一样"而开始积极就医.自发病以来,进食正常,睡眠正常,二便功能正常.
参考文献:

[1] Lautrup  Sofie,Caponio  Domenica,Cheung  Hoi-Hung,Piccoli  Claudia,Stevnsner  Tinna,Chan  Wai-Yee,Fang  Evandro F..Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases[J].2019,(3).255-269.

[2] Namiko Matsumoto,Yasuyuki Ohta,Kentaro Deguchi,Masayuki Kishida,Kota Sato,Jingwei Shang,Mami Takemoto,Nozomi Hishikawa,Toru Yamashita,Aki Watanabe,Koutaro Yokote,Minoru Takemoto,Junko Oshima,Koji Abe.Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C[J].2019,(7).1033-1036.10.2169/internalmedicine.1816-18.

[3] Castagna  Alberto,Gareri  Pietro,Falvo  Francesca,Sestito  Simona,Rocca  Maurizio,Pensabene  Licia,Concolino  Daniela,Coppolino  Giuseppe,Ruotolo  Giovanni.Werner syndrome: a rare mutation[J].2019,(3).425-429.

[4] Shappell  Heather,Kleinman  Monica E.,Gordon  Leslie B.,Brazier  Joan,D‘Agostino  Ralph B.  Sr.,Campbell  Susan E.,Massaro  Joe,Kieran  Mark W..Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome[J].2018,(16).1687-1695.

[5] Shibani Mukherjee,Debapriya Sinha,Souparno Bhattacharya,Kalayarasan Srinivasan,Salim Abdisalaam,Aroumougame Asaithamby.Werner Syndrome Protein and DNA Replication.[J].2018,(11).10.3390/ijms19113442.

[6] Oshima  Junko,Sidorova  Julia M.,Monnat  Raymond J.  Jr..Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions[J].2017,105-114.

[7] Yokote  Koutaro,Chanprasert  Sirisak,Lee  Lin,Eirich  Katharina,Takemoto  Minoru,Watanabe  Aki,Koizumi  Naoko,Lessel  Davor,Mori  Takayasu,Hisama  Fuki M.,Ladd  Paula D.,Angle  Brad,Baris  Hagit,Cefle  Kivanc,Palanduz  Sukru,Ozturk  Sukru,Chateau  Antoinette,Deguchi  Kentaro,Easwar  T. K. M.,Federico  Antonio,Fox  Amy,Grebe  Theresa A.,Hay  Beverly,Nampoothiri  Sheela,Seiter  Karen,Streeten  Elizabeth,Pina-Aguilar  Raul E.,Poke  Gemma,Poot  Martin,Posmyk  Renata,Martin  George M.,Kubisch  Christian,Schindler  Detlev,Oshima  Junko.WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects[J].2017,(1).7-15.

[8] Motegi  Sei-ichiro,Yokoyama  Yoko,Uchiyama  Akihiko,Ogino  Sachiko,Takeuchi  Yuko,Yamada  Kazuya,Hattori  Tomoyasu,Hashizume  Hiroaki,Ishikawa  Yuichi,Goto  Makoto,Ishikawa  Osamu.First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation[J].2014,(12).1047-1052.

[9] Fabio  Copped¨.The epidemiology of premature aging and associated comorbidities.[J].2013,1023-32.10.2147/CIA.S37213.

[10] Talaei F.,VanPraag V.M.,Henning R.H..Hydrogen sulfide restores a normal morphological phenotype in Werner syndrome fibroblasts, attenuates oxidative damage and modulates mTOR pathway[J].2013,34-44.

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