Autosomal recessive cutis laxa Phenotypic description of a case and literature review

被引:0
|
作者
Angelina Lacruz-Rengel, Maria [1 ]
Da Silva, Gloria [2 ]
Guerrero, Diana [3 ]
Quintero, Edimar [4 ]
Ordonez, Yuri [4 ]
Cammarata-Scalisi, Francisco [2 ]
机构
[1] Univ Los Andes, Dept Puericultura & Pediat, Serv Neuropediat, Merida, Venezuela
[2] Univ Los Andes, Dept Puericultura & Pediat, Unidad Genet Med, Merida, Venezuela
[3] Hosp San Rafael de Tunja, Boyaca, Colombia
[4] Univ Los Andes, Fac Med, Merida, Venezuela
来源
AVANCES EN BIOMEDICINA | 2016年 / 5卷 / 03期
关键词
Cutis laxa; clinical; histopathology; genetic classification; pathogenesis;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Cutis laxa is a rare skin disorder, characterized by redundant, inelastic and with an appearance of premature aging. It can be associated with the alteration of other organs involved in their prognosis. It can be inherited or acquired form, local or generalized. It has an estimated incidence of 1 in 1,000,000 births. Genetic studies have discovered a gene network growing required for biogenesis of the elastic fiber in the extracellular matrix and its involvement in the homeostatic maintenance of this integral component of the dermal connective tissue may be involved in the pathophysiology of this entity. We present a case of a child, product of consanguineous marriage with clinical and histopathological diagnosis of cutis laxa with autosomal recessive inheritance pattern.
引用
收藏
页码:196 / 201
页数:6
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