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点状掌跖角化病伴高血压-家系遗传分析 被引量:1

Genetic analysis for a family with punctate palmoplantar keratodermas complicated with hypertension
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摘要 目的:对一伴高血压的点状掌跖角化病家系进行分析。方法:对患者家系进行家系调查和分析,观察患者症状,对患者进行医院常规检查。结果:家系中有11人为点状掌跖角化病患者,所有患者皮损均局限于手足部位,发病年龄28岁到55岁,5人伴有高血压及多汗。结论:点状掌跖角化病是一种具有高度外显率的常染色体显性遗传性皮肤病。发病年龄10~55岁,该病以双掌跖部角化过度为特征,呈现典型的遗传早现现象,并可伴有高血压发生,存在遗传异质性。 Objective:To analyze a family with punctate palmoplantar keratodermas complicated with hypertension.Methods:The family tree was investigated and analyzed,the patients' symptoms were observed and the patients were instructed to have general checkup in hospitals regularly.Results: There are 11 people suffering from punctate palmoplantar keratodermas,all the patients' skin damage are restricted on limbs parts,the occurrence of the age is from 28 to 55 years old,5 people with hypertension and sweaty.Conclusion: Punctate palmoplantar keratodermas is caused by autosomal dominant inheritance,and has the genetic heterogeneity and genetic anticipation phenomenon.The disease with the ministry of excessive angular striker characteristics and the occurrence of the age is from 10 to 55 years old frequently complicated with hypertension.There exists genetic heterogeneity.
出处 《河南大学学报(医学版)》 CAS 2011年第1期66-69,共4页 Journal of Henan University:Medical Science
关键词 点状掌跖角化病 高血压 遗传分析 Punctate palmoplantar keratodermas Parentage Autosomal dominant inheritance
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参考文献15

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共引文献8

同被引文献5

  • 1高敏,杨森,李明,严开林,蒋亦秀,崔勇,肖凤丽,沈玉君,陈建军,刘江波,徐世杰,黄薇,张学军.一例点状掌跖角皮病大家系致病基因精细定位[J].食品与药品,2005,7(11A):34-38. 被引量:2
  • 2EIAmri I, Mamai O,Ghariani N, et al. Clinical and geneticcharacteristics of Buschke - Fischer - Bmuer disease in a Tuni-sian family, J Ann Dermatol Venereol,2010,137(4):269-275.
  • 3Zhang XJ, Li M, Gao TW, et al. Identification of a locus forpunctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. J Invest Dermatol,2004,122(5):1121-1125.
  • 4Guo BR, Zhang X, Chen G, et al. Exome sequencing identifiesa C0L14A1 mutation in a large Chinese pedigree with punctatepalmoplantar keratoderma. J Med Genet,2012,49(9):563-568.
  • 5Emmert S, Kiister W, Hennies HC, et al.47 patients in 14families with the rare genodermatosis keratosis punctata palmo-plantaris Buschke-Fischer-Brauer. J Eur J Dermatol,2003,13(I):16-20.

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