Cutis laxa

Cutis laxa Definition

It is an uncommon skin disease marked by inelastic skin, which may often hang in pendulous folds. The disorder affects the connective tissue that acts as a supportive framework for the body. In Latin, the medical term refers to “loose or lax skin”. Some of the other names of the disorder are:

Cutis laxa

  • Generalized elastorrhexis
  • Dermatochalasia
  • Generalized elastolysis
  • Pachydermatocele
  • Dermatolysis
  • Chalazoderma
  • Dermatomegaly

Cutis laxa Symptoms

Presence of loose folds gives a sagging appearance on the face and other areas of the body. As the skin of the neck, groin, and armpits develop wrinkles, the condition can give the patients a prematurely aged look. Dermatolysis becomes even more distressing as well as serious when it affects other parts of the body such as joints, blood vessels, heart, lungs, and intestines with a pronounced thickening and darkening of the overlying skin. These internal organs gradually lose their function and manifest into a myriad of complications in the absence of treatment. In fact, dermatochalasia of the heart has known to cause supravalvular pulmonary stenosis. Thickening of the arteries can lead to narrowing, bulging and tearing. Affected joints begin to stretch farther than normal due to excessive accumulation of lax on the tendons and ligaments. Few sufferers may develop soft outpouchings and hernias in the lower abdomen or belly button. Similar structures can occur in the bladder, which are generally called diverticula. In some instances, the sclera of the eyes turns blue.

Cutis laxa Causes

Generalized elastolysis is exclusively associated with a genetic cause. Medical experts have not found any external factors contributing to the disorder. Based on the mode of inheritance, the condition could be classified into the following types:

  • Autosomal dominant
  • Autosomal recessive
  • X-linked recessive

According to genetic researchers, the autosomal recessive form can produce adverse effects such as immobility, mental retardation, seizures, and delayed development. Occipital horn syndrome is the other name of X-linked recessive dermatolysis. Patients with this form of the disorder may have wedge-shaped calcium deposits at the base of the skull, joints, and hair.

Mutations in the following genes lead to a loss of skin elasticity at an early age:

  • ATP7A
  • ATP6V0A2
  • EFEMP2
  • FBLN5
  • ELN

The hereditary units constitute the elastic fibers, bundles of proteins found in the dermis that provide flexibility and strength to the connective tissues. Alterations in these genes can affect the structural appearance and formation of elastic fibers. As there is a shortage of elastic fibers, the connective tissues in the skin as well as other internal organs become weak. In some cases, the disease is acquired due to anomalous destruction of elastic fibers.

Cutis laxa Diagnosis

It is easy to determine chalazoderma by clearly observing the dermatologic manifestations. Family history of the patients can provide sufficient diagnostic information about the condition. However, healthcare givers may conduct few tests to confirm the disorder.

Blood test

Although the CBC count is normal, some patients may have increased levels of Beta-2 microglobulin.


The clinical technique can reveal the presence of myeloma by quantifying serum protein and immunoglobulins.


In this procedure, a single antibody such as immunoglobulin A/M/G, fibrin, C3 or C1q is chemically linked to fluorophore, which identifies the target molecule and binds to it.

Urine test

The amount of serum and elastin peptide could be elevated in some patients.

Imaging studies

An echocardiogram can spot the cardiac abnormalities caused by the disease. Similarly, a chest X-ray can monitor the function of the affected lungs.


Histological examination of a small piece of the affected skin may reveal degenerative changes in the elastic fibers.

Cutis laxa Treatment

Currently, there are no curative options available for dermatolysis due to its inheritance pattern. Healthcare providers, however, prescribe dapsone to control swelling and reduce discomfort. Many patients opt for surgery in order to correct hernias and skin folds.

Cutis laxa is usually non-treatable, but most individuals have a normal life expectancy as long as the condition does not involve the internal organs. It would be advisable to consult a physician prior to development of serious complications.


Picture of Cutis laxa


Cutis laxa in babies



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