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Related Experiment Videos

Cutis laxa: autosomal dominant inheritance in five generations.

A Damkier1, F Brandrup, H Starklint

  • 1Department of Dermatology I, Odense University Hospital, Denmark.

Clinical Genetics
|May 1, 1991
PubMed
Summary

Cutis laxa, a rare genetic disorder, causes loose, wrinkled skin due to reduced dermal elastic tissue. This study highlights its autosomal dominant inheritance pattern across multiple generations.

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Area of Science:

  • Genetics
  • Dermatology
  • Internal Medicine

Background:

  • Cutis laxa is a rare connective tissue disorder characterized by loose, sagging skin.
  • It can affect various organs, including the gastrointestinal tract, and is often inherited.

Purpose of the Study:

  • To describe the clinical presentation and inheritance pattern of Cutis laxa in a three-generation family.
  • To investigate the histopathological findings of the skin in affected individuals.

Main Methods:

  • Clinical examination of three affected family members across three generations.
  • Histopathological analysis of skin biopsies to assess elastic tissue.
  • Review of family history for inheritance patterns.

Main Results:

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  • Affected individuals presented with loose, wrinkled, inelastic skin from puberty to early adulthood.
  • Gastrointestinal diverticulae, abdominal hernia, and genital prolapse were noted in older patients.
  • Histopathology revealed reduced dermal elastic tissue, but normal localization and ultrastructure.

Conclusions:

  • The findings are consistent with autosomal dominant inheritance of Cutis laxa.
  • The study emphasizes the variable clinical manifestations and the importance of a thorough family history.