Abstract
Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a previous inflammatory skin disorder (urticaria…). The characteristic symptomatological pattern is resulting from paucity of elastic fibers. We report an 18 months old baby boy with a congenital cutis laxa. He was admitted in pediatric unit for respiratory disorders. The diagnosis of CL syndrome is based on clinical assessment of typical skin features and the associated extracutaneous finding.
Highlights
Cutis laxa is a rare disorder of unknown cause characterized by progressive looseness of the skin associated with abnormalities of others organs and structures containing elastic tissue such as lung, vasculature, or gastrointestinal tract [1]
The disease is characterized by a generalized reduction in the amount and size of elastic fibers and fragmentation and disruption of their normal arrangement [2,3]
In contrast autosomal dominant (OMIM123700) inheritance is associated with mild condition without systemic abnormalities; this form is caused by mutations in the elastin gene [7]
Summary
Cutis laxa is a rare disorder of unknown cause characterized by progressive looseness of the skin associated with abnormalities of others organs and structures containing elastic tissue such as lung, vasculature, or gastrointestinal tract [1]. This article is available online at: http://www.panafrican-med-journal.com/content/article/20/3/full/ Pan African Medical Journal – ISSN: 1937- 8688 (www.panafrican-med-journal.com) Published in partnership with the African Field Epidemiology Network (AFENET). The most clinical feature is loose and pendulous skin, sagging of cheeks, or prematurely aged appearance.
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