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Cutis Laxa syndrome: a case report.

Mohamed Hbibi1, Sana Abourazzak1, Mounia Idrissi1

  • 1Department of Pediatrics, University Hospital Hassan II Fès, Morocco.

The Pan African Medical Journal
|May 22, 2015
PubMed
Summary

Cutis laxa is a rare connective tissue disorder causing loose skin due to poor elastic fibers. This case highlights a congenital form in an infant presenting with respiratory issues, emphasizing clinical diagnosis.

Keywords:
Cutis laxaconnective tissueemphysema

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Area of Science:

  • Genetics and rare diseases
  • Dermatology
  • Pediatric medicine

Background:

  • Cutis laxa (CL) is a group of inherited and acquired connective tissue disorders.
  • Characterized by loose skin and potential systemic issues like hernias and cardiopulmonary disease.
  • Pathology stems from a paucity of elastic fibers.

Observation:

  • Presents an 18-month-old male infant with congenital cutis laxa.
  • The infant was admitted to a pediatric unit due to respiratory disorders.
  • Diagnosis relies on clinical evaluation of skin and extracutaneous findings.

Findings:

  • Congenital cutis laxa identified in a pediatric patient.
  • Associated respiratory complications were noted.
  • Clinical presentation confirmed the diagnosis.

Implications:

  • Underscores the importance of clinical assessment in diagnosing rare connective tissue disorders.
  • Highlights the potential for early-onset systemic complications, particularly respiratory issues.
  • Contributes to understanding the heterogeneity of cutis laxa presentations in infants.