Cutis Laxa: A Rare Entity

被引:0
|
作者
Saleem, Farhan [1 ]
Aziz, Sina [1 ]
机构
[1] Abbasi Shaheed Hosp, Karachi Med & Dent Coll, Dept Paediat Unit 2, Karachi, Pakistan
来源
ANNALS ABBASI SHAHEED HOSPITAL & KARACHI MEDICAL & DENTAL COLLEGE | 2013年 / 18卷 / 01期
关键词
Cutis laxa; connective tissue disorder; genetic; acquired; genetic skin disorder; inborn error;
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 heterogeneous group of connective tissue disorders related to abnormalities in elastic tissue. It may be autosomal recessive (Type I and Type II), autosomal dominant, X-linked recessive or acquired. Inborn errors of elastin synthesis and structural defects of extracellular matrix proteins lead to decreased elasticity and redundant, sagging skin in affected patients. It involves skin, lungs, endocrine system, gastrointestinal tracts, cardiovascular system and genitourinary tracts. Clinical manifestations of cutis laxa depend on the type of disease, whether X-linked, autosomal dominant, recessive or acquired. Clinical features of these different types may overlap in a patient. We report a case of cutis laxa in an infant, solely diagnosed on the basis of history and physical examination of the case reported. The clinical features and complications of the case and review of the literature are discussed.
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页码:50 / 53
页数:4
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