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[Congenital generalized cutis laxa].

D Lambert, F Beer, C Jeannin-Magnificat

    Annales De Dermatologie Et De Venereologie
    |January 1, 1983
    PubMed
    Summary
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    Personalized medicine·2018

    Congenital cutis laxa, a rare elastic tissue disorder causing premature aging, is presented in a new case with craniosynostosis. This rare genetic disorder has unclear inheritance patterns and varying prognoses depending on associated conditions.

    Area of Science:

    • Genetics
    • Dermatology
    • Pediatrics

    Background:

    • Congenital cutis laxa is a rare genetic disorder characterized by the abnormal development of elastic tissue, leading to excessively loose skin and a premature aging appearance.
    • The precise genetic underpinnings of cutis laxa remain incompletely understood, with proposed modes of inheritance including autosomal recessive, autosomal dominant, and X-linked patterns in existing literature.

    Observation:

    • This report details a novel case of congenital cutis laxa presenting concurrently with craniosynostosis, a condition involving the premature fusion of skull bones.
    • The patient exhibited characteristics typical of cutis laxa, alongside the skeletal abnormality of craniosynostosis.

    Findings:

    • The study highlights the association of congenital cutis laxa with craniosynostosis, adding a new dimension to the phenotypic spectrum of this rare disorder.

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  • While pulmonary emphysema is a severe visceral complication in some cutis laxa cases, the presence of developmental retardation and minor skeletal injuries in this case suggests a potentially better prognosis.

    • Implications:

    • This case underscores the phenotypic variability of congenital cutis laxa and the importance of considering associated congenital anomalies.
    • Further research into the genetics of cutis laxa is warranted to clarify inheritance patterns and improve diagnostic and prognostic accuracy.
    • Understanding the interplay between cutis laxa and conditions like craniosynostosis can aid in comprehensive patient management and counseling.