Cutis laxa

Cutis laxa is a connective tissue disorder and as the name suggests, it is characterized by extremely lax and wrinkled skin.

• == Etiology ==
• The term "cutis laxa" is Latin for loose or lax skin
• The skin that is sagging and not stretchy
• The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance.
• Particularly noticeable on the neck and in the armpits and groin.

Other areas affected

Cutis laxa can also affect connective tissue in other parts of the body, including

• the heart,
• blood vessels,
• joints,
• intestines, and
• lungs.

• The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries.
• Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia).
• Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines.
• During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe.
• Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening.

Forms of cutix laxa

There are many forms are often distinguished by their pattern of inheritance:

• autosomal dominant,
• autosomal recessive, or
• X-linked.

Autosomal recessive

• In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms.
• In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.

X-linked

• The X-linked form of cutis laxa is often called occipital horn syndrome.
• This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body.
• In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.

Frequency

• Cutis laxa is a rare disorder.
• About 200 affected families worldwide have been reported.

Causes

Cutis laxa is a genetic condition caused by mutations in several genes, including:

• ATP6V0A2,
• ATP7A,
• EFEMP2,
• ELN, and
• FBLN5.

Disorder of elastin

• Most of these genes are involved in the formation and function of elastic fibers
• The major component of elastic fibers, a protein called elastin, is produced from the ELN gene.
• Other proteins that appear to have critical roles in the assembly of elastic fibers are produced from the EFEMP2, FBLN5, and ATP6V0A2 genes.
• A shortage of these fibers weakens connective tissue in the skin, arteries, lungs, and other organs.

Occipital horn syndrome

• Occipital horn syndrome is caused by mutations in the ATP7A gene.
• This gene provides instructions for making a protein that is important for regulating copper levels in the body.
• Mutations in the ATP7A gene result in poor distribution of copper to the body's cells.
• A reduced supply of copper can decrease the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.
• The signs and symptoms of occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.

Mutation in other genes

• Mutations in the genes described above account for only a small percentage of all cases of cutis laxa. Mutations in other genes, some of which have not been identified, can also cause the condition.

Acquired cutis laxa

• Rare cases of cutis laxa are acquired, which means they do not appear to be caused by inherited gene mutations.
• Acquired cutis laxa appears later in life and is related to the destruction of normal elastic fibers.
• The causes of acquired cutis laxa are unclear, although it may occur as a side effect of treatment with medications that remove copper from the body (copper chelating drugs).

File:Medical Heritage Library (IA gasparistaliacot00tagl).pdf

Inheritance

Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance. Based on the inheritance, the following types of cutis laxa are described.

• Cutis laxa, autosomal dominant 1
• Cutis laxa, autosomal dominant 2
• Cutis laxa, autosomal dominant 3
• Cutis laxa, autosomal recessive, type ia
• Cutis laxa, autosomal recessive, type ib
• Cutis laxa, autosomal recessive, type ic
• Cutis laxa, autosomal recessive, type iia
• Cutis laxa, autosomal recessive, type iib
• Cutis laxa, autosomal recessive, type iiia
• Cutis laxa, autosomal recessive, type iiib
• Cutis laxa, neonatal, with marfanoid phenotype
• Occipital horn syndrome

ELN mutations

• When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern.
• Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
• Rarely, cases of cutis laxa resulting from FBLN5 mutations can also have an autosomal dominant pattern of inheritance.

Other Names for This Condition

• dermatolysis
• dermatomegaly

Associated conditions

• drug hypersensitivity reactions
• multiple myeloma
• amyloidosis
• systemic lupus erythematosus

Treatment

• Although there is no cure yet for cutis laxa, procedures aimed at mitigating symptoms and identifying subsequent conditions are often advised.
• No pharmacological agent or drug has been able to stop the progression of the disease.
• Cosmetic surgeries are potentially an option as cutis laxa does not generally involve vascular fragility.

See also

• Occipital horn syndrome
• List of cutaneous conditions

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