About cutis laxa-growth deficiency syndrome

What is cutis laxa-growth deficiency syndrome?

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities.

What are the symptoms for cutis laxa-growth deficiency syndrome?

Microcephaly symptom was found in the cutis laxa-growth deficiency syndrome condition

Symptoms of cutis laxa usually depend upon the exact type of the disorder. The shared symptom is loose, wrinkled skin (elastolysis). Unlike other skin disorders, cutis laxa doesn’t cause easy Bruising or scarring.

People with cutis laxa also have internal problems, such as abdominal aortic aneurysm. A portion of the aorta enlarges or bulges in people with this condition. Another common symptom is emphysema, in which the lungs don’t function properly.

Other symptoms associated with cutis laxa include:

  • developmental delays
  • eyes that are further apart than is typical
  • feeding difficulties in infants
  • fragile bones
  • lax or loose joints
  • low-set ears or ears that aren’t properly formed
  • poor muscle tone
  • short stature
  • slower-than-normal heart rate
  • under-developed lungs

Symptoms can vary, even within a family with a genetic history of cutis laxa. Some people may have more severe symptoms than others.

What are the causes for cutis laxa-growth deficiency syndrome?

Cutis laxa is caused by mutations in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. For disorders classified as cutis laxa, these mutations can be inherited in an autosomal recessive or autosomal dominant trait.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In some cases, an autosomal dominant mutation results from a spontaneous (de novo) mutation that occurs randomly and is not inherited.

A significant number of individuals diagnosed with cutis laxa do not have a mutation in one of the genes known to cause a subtype of cutis laxa. Most likely, additional, as-yet-unidentified genes cause cutis laxa in these cases.

What are the treatments for cutis laxa-growth deficiency syndrome?

There is no cure for cutis laxa currently or any treatments that prevent the disease. Cutis laxa treatment focuses on managing symptoms and treating other conditions. These include:

Sometimes you can have plastic surgery to remove extra, loose skin, but the effects are only temporary as the skin comes back. 

Regular appointments with your doctor are important to manage your symptoms.

What are the risk factors for cutis laxa-growth deficiency syndrome?

The exact cause for the acquired type is unknown. This disorder often happens with other conditions or after exposure to certain medications. These include some:

  • Infections
  • Cancers like lymphoma
  • Inflammatory diseases like celiac disease
  • Autoimmune diseases like rheumatoid arthritis
  • Medications like penicillin

These conditions and medications are thought to be environmental and immune system triggers that activate the gene.

Is there a cure/medications for cutis laxa-growth deficiency syndrome?

Cutis laxa is an inherited or acquired disorder of the skin, and connective tissue.

  • The inheritance occurs in an autosomal recessive, dominant, or X-linked fashion.
  • The causative mutations are in the genes for the synthesis of elastin and structural proteins of the extracellular matrix.
  • Particularly, cutis laxa growth deficiency syndrome is characterized by growth and developmental delay and skeletal anomalies. It is also known as autosomal recessive cutis laxa type 2 (ARCL2).
  • The patients have an error in the metabolism of N- and O-glycan biosynthesis due to an abnormal proton gradient in the Golgi apparatus and unique glycosylation.
  • Abnormal histological staining and ultrastructure in skin biopsy confirm the disease.


  • Due to the involvement of internal organs, the treatment might require multiple expertise in cardiology, pulmonology, dermatology, and plastic surgery,
  • Botulinum toxin works best for the skin manifestations in the acquired form of the disease.
  • Beta-blockers, including propranolol, acebutolol, and metoprolol, prevent aortic aneurysm and pulmonary emphysema.
  • Surgical interventions are required to treat hernia and skeletal malformations.
  • Plastic or cosmetic surgery is used to treat wrinkly skin. Though the surgery has excellent outcomes, the wrinkles reappear.
  • Exposure to sunlight and cigarettes offer risks of skin manifestations, and hence, they must be avoided.
  • Though pulmonary and cardiac complications are infrequent, regular monitoring of lung function and cardiac fitness is necessary.

Loose,Hanging skin especially on the face, neck and thighs,Loose joints, sometimes called double-jointedness
Irregular narrowing or bulging in blood vessels,Hernias,Pouches in your intestines called diverticula,Emphysema
Aortic aneurysm,Pulmonary arterial hypoplasia.
Cardiac hypertrophy,Bradycardia,Developmental delays,Feeding difficulties in infants nearsightedness, seizures,Poor muscle tone,Short stature,Under-developed lungs
Cosmetic surgery to tighten skin that is loosened due to cutis laxa; these results may last temporarily,Surgeries to repair hernias,Medications to control swelling,Beta-blockers such as Inderal, Lopressor, Toprol etc. for heart problems,Botox for wrinkles in your lungs,Corticosteroid Inhalers like Advair and Dulera for emphysema,Physical therapy

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