Literature DB >> 12047642

Cutis laxa in seven members of a north-Indian family.

Rashmi Sarkar1, Charandeep Kaur, Amrinder J Kanwar, Srikanta Basu.   

Abstract

Congenital cutis laxa, characterized by cutaneous laxity and loose skin, may be autosomal dominant or autosomal recessive. The autosomal dominant variety is usually not associated with any systemic defects and has a good prognosis. We report an unusual family in which seven members were affected by the autosomal dominant variant of this disorder. We suggest that close monitoring of the cardiorespiratory systems may be worthwhile to detect any systemic complications, although these complications are rare in the autosomal dominant variant of cutis laxa.

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Year:  2002        PMID: 12047642     DOI: 10.1046/j.1525-1470.2002.00074.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  1 in total

1.  New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Authors:  Bert Callewaert; Marjolijn Renard; Vishwanathan Hucthagowder; Beate Albrecht; Ingrid Hausser; Edward Blair; Cristina Dias; Alice Albino; Hiroshi Wachi; Fumiaki Sato; Robert P Mecham; Bart Loeys; Paul J Coucke; Anne De Paepe; Zsolt Urban
Journal:  Hum Mutat       Date:  2011-03-01       Impact factor: 4.878

  1 in total

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