Cutis laxa

From WikiMD's Wellnesspedia

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).
Skin-grafting
Skin-grafting

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]

Cutis laxa Resources

Find a healthcare provider anywhere in the world quickly and easily!

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Admin, Prab R. Tumpati, MD