Cutis Laxa

Overview

Cutis laxa is a genetic condition that causes problems with connective tissue, which forms the body’s supportive framework. This is either present at birth or can develop after birth. The main feature is loose or lax skin, which often hangs in loose folds. It can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. Some children with cutis laxa develop a lung disease called emphysema. There are different types of cutis laxa grouped by inheritance pattern. The severity of the condition is very variable from case to case, but in the most severe cases the condition is sadly fatal in early life. The condition can be caused by changes (mutations) involving one of many genes including ATP6V0A2, ATP7A, EFEMP2, ELN or FBLN5. Diagnosis of cutis laxa can be made by skin biopsies (examination of a small piece of skin tissue) and pulmonary (lung) tests. The genetic changes causing the condition can be inherited. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Veronica Kinsler, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for cutis laxa in the UK. A support group outside of the UK exists for cutis laxa, please ring our helpline for details. You can also connect with other families in our closed Facebook group