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名词信息
中 文 名:
扩张型心肌病伴羊毛状发及角化病
英 文 名:
dilated cardiomyopathy with woolly hair and keratosis
中文又称:
皮肤脆弱-羊毛发-掌跖皮肤角化综合征
中文曾称:
名词来源:
所属专业:
皮肤科
所属类别:
疾病诊断名词
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Pubmed相关的文献
dilated cardiomyopathy with woolly hair and keratosis
相关文献:
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
Carvajal-Huerta L.
J Am Acad Dermatol. 1998 Sep;39(3):418-21. doi: 10.1016/s0190-9622(98)70317-2.
PMID:9738775
Molecular genetics of alopecias.
Ramot Y, Zlotogorski A.
Curr Probl Dermatol. 2015;47:87-96. doi: 10.1159/000369408. Epub 2015 Feb 20.
PMID:26370647
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP.
Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.
PMID:30382575
Naxos disease.
Adhisivam B, Mahadevan S.
Indian J Pediatr. 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834.
PMID:16816500
Corny feet in the ICU.
Pennou C, Ringuet J, Coulombe J.
Pediatr Dermatol. 2021 Jan;38(1):283-284. doi: 10.1111/pde.14439.
PMID:33630364
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.
Guerra L, Magliozzi M, Baban A, Di Mambro C, Di Zenzo G, Novelli A, El Hachem M, Zambruno G, Castiglia D.
Acta Derm Venereol. 2019 Jul 1;99(9):831-832. doi: 10.2340/00015555-3216.
PMID:31073624
Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy.
Peirone A, Bruno E, Rossi N, Alday LE.
Pediatr Cardiol. 2005 Jul-Aug;26(4):470-2. doi: 10.1007/s00246-004-0779-1.
PMID:15690239
Clinical spectrum of woolly hair: indications for cerebral involvement.
Pavone P, Falsaperla R, Barbagallo M, Polizzi A, Praticò AD, Ruggieri M.
Ital J Pediatr. 2017 Nov 2;43(1):99. doi: 10.1186/s13052-017-0417-1.
PMID:29096685
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP.
Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761.
PMID:11063735
Carvajal Syndrome- A Variant of Naxos Disease: A Case Report.
Mandal KD, Shrestha PN, Ghimire A, Joshi P, Agrawal S, Shrestha P.
JNMA J Nepal Med Assoc. 2022 Feb 15;60(246):187-191. doi: 10.31729/jnma.7102.
PMID:35210635
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