Cutis laxa
(Redirected from Cutis laxa, autosomal recessive type 1)
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[edit | edit source]
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[edit | edit source]
There are many forms are often distinguished by their pattern of inheritance:
- autosomal dominant,
- autosomal recessive, or
- X-linked.
Autosomal recessive[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- Cutis laxa is a rare disorder.
- About 200 affected families worldwide have been reported.
Causes[edit | edit source]
Cutis laxa is a genetic condition caused by mutations in several genes, including:
- ATP6V0A2,
- ATP7A,
- EFEMP2,
- ELN, and
- FBLN5.
Disorder of elastin[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- 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).
Inheritance[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
- dermatolysis
- dermatomegaly
Associated conditions[edit | edit source]
Treatment[edit | edit source]
- 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[edit | edit source]
- Occipital horn syndrome
- List of cutaneous conditions
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