Document Detail

Autosomal recessive form of congenital cutis laxa: more than the clinical appearance.
MedLine Citation:
PMID:  12383097     Owner:  NLM     Status:  MEDLINE    
Congenital cutis laxa is an uncommon disorder of generalized elastolysis. The clinical picture is characterized by inelastic, loose, hanging skin that gives the appearance of premature aging. The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form. There is often systemic organ involvement in patients with the autosomal recessive form. Cardiopulmonary abnormalities are common and mainly determine the prognosis and life expectancy. Pulmonary emphysema, cor pulmonale, and right-sided heart failure generally caused by pulmonary disease are often seen in infancy. Various cardiovascular abnormalities including aortic aneurysm, pulmonary artery multiple branch stenosis have been reported in patients with this form of congenital cutis laxa. We report a 10-month-old boy with the autosomal recessive form of congenital cutis laxa who had pulmonary valve stenosis. To the best of our knowledge, this is the first case of this association to be reported in the English language literature. We also emphasize the systemic complications that may be associated with congenital cutis laxa.
Nesibe Andiran; Fikriye Sarikayalar; Muhsin Saraçlar; Melda Cağlar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  19     ISSN:  0736-8046     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2002 Sep-Oct
Date Detail:
Created Date:  2002-10-17     Completed Date:  2003-05-08     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  412-4     Citation Subset:  IM    
Departments of Pediatrics, Hacettepe University, Ihsan Dogramaci Childrens Hospital, Ankara, Turkey.
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MeSH Terms
Cutis Laxa / complications,  congenital*,  genetics*,  pathology
Genes, Recessive*
Pulmonary Valve Stenosis / complications*,  ultrasonography

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