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[Congenital cutis laxa: a case study].

Aziza El Ouali1, Manal Azizi1, Siham Dikhaye2

  • 1Service de Pédiatrie, CHU Mohammed VI, Université Mohammed I, Oujda, Maroc.

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Summary

Cutis laxa (CL) is a rare connective tissue disorder causing loose skin. This case highlights a newborn with respiratory distress, emphasizing CL

Keywords:
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Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Cutis laxa (CL) encompasses rare, inherited elastic tissue disorders.
  • Characterized by loose, sagging skin, CL presents heterogeneously with varying visceral involvement.
  • Genetic transmission patterns include autosomal dominant, autosomal recessive, and X-linked recessive inheritance.

Observation:

  • This study focuses on a neonate experiencing respiratory distress.
  • The infant required medical follow-up starting sixteen days post-birth.
  • This case serves as a clinical reminder of rare CL presentations.

Findings:

  • The infant's presentation underscores the potential for severe, early-onset complications in CL.
  • Respiratory distress in neonates can be an indicator of underlying connective tissue disorders like CL.
  • Early identification and management are crucial for improving prognosis.

Implications:

  • Highlights the importance of considering rare genetic disorders in neonatal respiratory distress.
  • Emphasizes the need for heightened clinical awareness of Cutis laxa in pediatric care.
  • Suggests that prompt diagnosis and intervention can mitigate severe outcomes associated with CL.