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Related Experiment Videos

[Cutis laxa syndrome. Case report].

A Kermane1, S Tachfouti, M Lezrek

  • 1Service d'Ophtalmologie A, Hôpital des Spécialités Rabat, Maroc.

Bulletin De La Societe Belge D'Ophtalmologie
|July 16, 2004
PubMed
Summary

Cutis laxa, a rare connective tissue disorder, presents with loose skin and can cause severe ocular issues like ectropion and entropion. This case highlights the critical systemic and ophthalmic manifestations, emphasizing the need for early diagnosis.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Cutis laxa is a rare, heterogeneous connective tissue disorder characterized by loose skin due to a lack of elastic fibers.
  • Both congenital and acquired forms exist, with ocular anomalies frequently associated with the autosomal recessive type.

Observation:

  • A 4-year-old boy with congenital cutis laxa presented with ectropion of the right lower eyelid and entropion of the left lower eyelid.
  • The patient exhibited significant systemic involvement, including inguino-scrotal hernia, dental caries, and severe pulmonary emphysema.

Findings:

  • Ophthalmic examination revealed specific eyelid malpositions (ectropion and entropion) in a child with cutis laxa.
  • The case underscores the severe, multi-systemic impact of cutis laxa, leading to fatal pulmonary complications.

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Implications:

  • This case emphasizes the importance of comprehensive ophthalmic and systemic evaluation in patients diagnosed with cutis laxa.
  • Understanding the clinical, genetic, and physiopathological aspects of cutis laxa is crucial for managing associated ocular and systemic manifestations.