Cutis Laxa or Dermatochalasia is a rare skin condition characterized by inelastic skin or skin which has lost its elasticity, due to which it hangs in pendulous folds. The condition affects the connective tissue, whose function is acting as a supportive framework for the complete body.
Cutis Laxa also goes by these names: Generalized Elastorrhexis, Dermatochalasia, Generalized Elastolysis, Pachydermatocele, Dermatolysis, Chalazoderma and Dermatomegaly.
Presently, there is no cure for this condition. Treatment is done by giving medications to control swelling, and to treat complications arising from this condition. Surgery is done to correct the loose, saggy skin.
Signs & Symptoms of Cutis Laxa or Dermatochalasia
- The characteristic symptom about this condition is loose folds on the body giving a sagging appearance to the patient’s face and the rest of the body.
- The skin on the neck, armpits, groin develops wrinkles, thus giving prematurely aged appearance to the patient.
- This condition becomes more serious and troublesome when it affects the heart, lungs, intestines, joints and blood vessels causing prominent darkening and thickening of the above skin.
- The affected internal organs lose their ability to function over the time; and if left untreated, cause a host of complications to the patient, such as Cutis Laxa affecting the heart causes supravalvular pulmonary stenosis.
- Thickening of the arteries cause them to narrow, bulge and tear.
- The joints stretch more than normal because of excessive laxity of the ligaments and tendons.
- Some patients may develop hernias and soft outpouchings in the belly button or lower abdomen.
- In some cases, the eye sclera turns blue.
Causes of Cutis Laxa or Dermatochalasia
Generalized Cutis Laxa or Dermatochalasia occurs due to genetic cause. There is no evidence of external factors causing this disease. Depending on the method of inheritance, this disease is classified into:
- Autosomal dominant.
- Autosomal recessive.
- X-linked recessive.
According to experts, the autosomal recessive type causes adverse effects like mental retardation, immobility, seizures and delayed development.
Investigations for Cutis Laxa or Dermatochalasia
Physical examination can easily confirm this disease due to its characteristic dermatological appearance. Family history also helps with the diagnosis. Other than this, further tests can be carried out for confirmation, such as:
- Blood tests.
- Urine test.
- Chest x-ray to assess the lung function.
- ECG to look for any cardiac abnormalities.
- Skin biopsy can reveal degenerative changes in the elastic fibers of the skin.
Treatment for Cutis Laxa or Dermatochalasia
- As of now, owing to its inheritance pattern, there is no cure for Cutis Laxa or Dermatochalasia.
- Medications, such as dapsone, are prescribed to alleviate any discomfort and to control the swelling.
- Despite this condition being non treatable, patients can live a long life as long as the internal organs are not affected.
- Patients should undergo periodic cardiovascular and pulmonary evaluations with echocardiograms and lung function testing.
- Medications like beta-blockers can be given to prevent aortic aneurysms.
- Smoking which worsens emphysema should be avoided.
- Sun bathing damages the skin further and should be avoided.
- Surgery is done to correct the redundant, loose skin folds and gives quite a good result. However, the affect may not be long lasting and the skin can start to sag again.
- Surgery is also done for prolapse and hernias.
- Botulinum toxin injections can help in improving the facial defects and the premature aged appearance seen with this condition.
- National Organization for Rare Disorders. (2021). Cutis Laxa. https://rarediseases.org/rare-diseases/cutis-laxa/
- MedlinePlus. (2021). Cutis Laxa. https://medlineplus.gov/ency/article/001468.htm
- Genetics Home Reference. (2021). Cutis Laxa. https://ghr.nlm.nih.gov/condition/cutis-laxa
- Verma, S., & Lin, K. W. (2020). Cutis Laxa. In: StatPearls. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK551728/
- Saraceno, G., Musumeci, M. L., & Ventura, A. (2016). Cutis laxa: a review. Journal of the European Academy of Dermatology and Venereology, 30(12), 2011-2018. doi:10.1111/jdv.13800
- Uitto, J., & Varki, A. (2020). Dermatochalasia and cutis laxa. In: Adam, M. P., Ardinger, H. H., Pagon, R. A., Wallace, S. E., Bean, L. J. H., Stephens, K., & Amemiya, A. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1123/