What are the other Names for this Condition? (Also known as/Synonyms)

• Cutis Laxa
• Dermatochalasia
• Generalized Elastorrhexix

What is Generalized Elastolysis? (Definition/Background Information)

• Generalized Elastolysis is a term describing a group of rare disorders characterized by inelastic saggy skin, due to connective tissue dysfunction
• The exact cause of Generalized Elastolysis is not known. The disorder can be inherited genetically; or, it can be acquired following episodes of inflammatory skin conditions, reactions to drugs, or other skin/vascular conditions
• A healthcare provider typically diagnoses Generalized Elastolysis upon examination of the skin for its characteristic clinical features, and subsequently performing a biopsy to assess the pathological features of the condition
• Currently, there is no treatment for Generalized Elastolysis, and its progression cannot be prevented. Treatment and cosmetic options are provided for the management of complications that arise because of the condition
• The prognosis of Generalized Elastolysis is varied, as some affected individuals may have a normal life expectancy, while others may have a more life-threatening form of the condition

Who gets Generalized Elastolysis? (Age and Sex Distribution)

• Generalized Elastolysis usually affects individuals of all ages
• The condition affects both males and females
• All racial and ethnic groups are at risk and the condition is observed worldwide

What are the Risk Factors for Generalized Elastolysis? (Predisposing Factors)

• The risk factor for one cohort of patients with Generalized Elastolysis is primarily a family history of the condition (inheritance)
• Risk factors for acquired forms of Generalized Elastolysis may include:
  • Use of certain medications
  • Certain skin, inflammatory, or vascular conditions

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Generalized Elastolysis? (Etiology)

Generalized Elastolysis is the result of dysfunctional connective tissue, some of which are known to be caused by gene mutations. The specific mechanism by which these mutations cause the symptoms is not definitively understood. Generalized Elastolysis is known to be either inherited genetically or produced by certain clinical episodes of inflammatory skin conditions, drug reactions, or other skin/vascular conditions

Genetic inheritance of Generalized Elastolysis:

• The inheritance can be either autosomal dominant (where a single parent can pass the condition to a child) or autosomal recessive (where a gene is required from both parents to produce the condition in the child), or X-linked recessive
• There are a wide variety of genes that can cause Generalized Elastolysis
• The genes involved in Generalized Elastolysis are related to proper function and viability of elastic fibers of soft tissue

Acquired form of Generalized Elastolysis:

• Acquired forms often occur in adults and are related to damage of normally-functioning elastic fibers
• It may be due to certain skin disorders and blood vessel conditions (vasculitis)
• It is possible that the destruction of elastic fibers result as side effect of medications. Some researchers believe that an abnormal depletion of copper due to certain medications may be causative

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

X-linked recessive: X-linked recessive conditions are traits or disorders that occur when two copies of an abnormal gene are inherited on the two X sex chromosomes that a female has or is present on the single X chromosome of a male (the other sex chromosome is a Y chromosome, which carries many genes distinctly different from X chromosomes). All X-linked recessive traits are fully evident in males because they have only one copy of the X chromosome. This means that there is no normal gene present to mask the effects of the mutant copy. All males who are affected will pass the mutated gene onto their female offspring, because they must inherit one copy of the X chromosome from each parent. This means that the female children of an affected male will be unaffected carriers. Females are rarely affected by X-linked recessive disorders because they have two copies of the X chromosome. In the rare case that they inherit two mutated copies of the gene, one from each parent, they will inherit the condition.

What are the Signs and Symptoms of Generalized Elastolysis?

The various signs and symptoms of Generalized Elastolysis depend on how the condition is inherited. However, in general, the following are commonly noted:

• Loose skin that hangs from the body
• Decreased rebound of skin after stretching

When the condition is inherited in an X-linked manner, the signs and symptoms may include:

• Loose skin
• Hyperextensibility of joints
• Abnormal bone formation
• Digestive issues
• Mental retardation

Autosomal recessive type I (severe) and type II symptoms start from birth and include:

• Loose skin
• Abnormal bone formation
• Lung disease
• Enlarged aorta
• Hernia

Autosomal dominant form of Generalized Elastolysis may present symptoms including loose skin involving the face, which can begin at any age.

How is Generalized Elastolysis Diagnosed?

The diagnosis of Generalized Elastolysis is made using the following tools:

• A complete physical examination and an assessment of symptoms
• An evaluation of the affected individual’s medical history
• A family history for similar findings, with examination of affected relatives
• Examination of the skin by a healthcare provider for dermatological signs of Generalized Elastolysis
• Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Genetic testing may be done to determine the specific genetic sites involved

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Generalized Elastolysis?

The potential complications of Generalized Elastolysis may include abnormal functioning of major organs, since a normal functioning connective tissue is essential. This may lead to the following:

• Congestive heart failure
• Pulmonary failure
• Signs and symptoms related to a dysfunctional gastrointestinal tract and urinary tract

How is Generalized Elastolysis Treated?

Currently, it is not possible to treat Generalized Elastolysis. Instead, the treatment focuses on symptoms that are present in the affected individual. These may include:

• Any variety of care and repair that help maintain organ functionality
• Some patients may also undergo cosmetic surgery to treat the skin symptoms and improve their physical appearance

How can Generalized Elastolysis be Prevented?

Generalized Elastolysis is not a preventable condition, when it is inherited genetically. Acquired forms of Generalized Elastolysis may be prevented in some cases by considering the following measures:

• Avoiding or discontinuing medications resulting in the condition
• Addressing skin conditions that can lead to Generalized Elastolysis

Also, the exacerbation of related symptoms can be avoided by decreasing one’s exposure to toxic materials.

What is the Prognosis of Generalized Elastolysis? (Outcomes/Resolutions)

• The prognosis of Generalized Elastolysis is varied and depends on the part/organs of the body involved
• Many cases are generally not life-threatening; but some cases, in which the function of vital organ(s) is affected, can lead to death

Additional and Relevant Useful Information for Generalized Elastolysis:

Generalized Elastolysis is believed to have many related mutations on the 5th chromosome.