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Cutis laxa and pulmonary emphysema.

S K Chhabra¹, R K Gupta, T Singh

¹Department of Cardiorespiratory Physiology, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi, India. skchhabra@mailcity.com

The Indian Journal of Chest Diseases & Allied Sciences

|July 10, 2008

Summary

This summary is machine-generated.

Cutis laxa, a rare skin disorder from defective elastin, can lead to pulmonary emphysema. This case highlights adult-onset emphysema in a patient with cutis laxa, challenging previous childhood-onset associations.

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Lung Fixation under Constant Pressure for Evaluation of Emphysema in Mice

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Published on: September 26, 2019

Area of Science:

Dermatology
Pulmonology
Genetics

Background:

Cutis laxa is a rare connective tissue disorder characterized by defective elastin synthesis, leading to loose, sagging skin.
Pulmonary emphysema, a severe lung condition, has been previously associated with cutis laxa, typically manifesting in childhood.

Observation:

This report details a unique case of a 38-year-old female patient diagnosed with cutis laxa.
The patient presented with symptomatic pulmonary emphysema, a finding not previously observed in adulthood in conjunction with this condition.

Findings:

The case demonstrates that symptomatic pulmonary emphysema can develop in adulthood in individuals with cutis laxa.
This challenges the established understanding that pulmonary complications of cutis laxa exclusively occur during childhood.

Implications:

The findings suggest a need to reconsider the typical age of onset for pulmonary emphysema in patients with cutis laxa.
Further research into the genetic and molecular mechanisms underlying elastin synthesis defects is warranted to understand varied clinical presentations.
This case underscores the importance of long-term pulmonary monitoring for adult patients with cutis laxa.