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Cutis laxa

Author: Vanessa Ngan, Staff Writer, 2006.

Table of contents

What is cutis laxa?

Cutis laxa (Latin for loose or lax skin) is a rare, inherited or acquired connective tissue disorder characterised by loosely hanging skin that lacks any elasticity. The way in which the condition presents itself is different according to how it is inherited or acquired. Cutis laxa is also known as generalised elastolysis.

Connective tissue is the body's supporting framework of tissue consisting of strands of collagen, elastic fibres between muscles and around muscle groups and blood vessels, and simple cells.

Who gets cutis laxa and why?

Most cases of cutis laxa are inherited. There are several forms of genetic inheritance: sex-linked, autosomal dominant, and autosomal recessive. The recessively inherited form is the most common and also the most severe. Recently discovered, a defective gene on chromosome 5 has been associated with problems in normal elastogenesis and is thought to be the cause of autosomal recessive cutis laxa.

Sex-linked The defective gene is carried on one of the sex chromosomes, in this case it is located on the X chromosome
Autosomal dominant Only one copy of the defective gene is needed for the disease to be present. A child has a 50% chance of inheriting the gene from either parent.
Autosomal recessive Two copies of the defective gene must be inherited for the disease to be present. A child must inherit a defective gene from both parents. The risk of transmitting an autosomal recessive disease is 25% for each pregnancy.

Acquired cutis laxa may develop at any age, but often begins in adulthood. It may occur spontaneously or in 50% of cases develop following episodes of urticaria or angioedema, extensive inflammatory skin disease (e.g. eczema, erythema multiforme, blistering eruption), or hypersensitivity reactions to penicillin or other drugs.

The actual underlying cause of cutis laxa is unknown. Several mechanisms appear to be involved in reducing elastic fibres.

What are the clinical features of cutis laxa?

The clinical features of cutis laxa are different according to the way the condition is inherited.

Inheritance Clinical Features
  • Loose skin
  • Loose joints (joint hyperextensibility)
  • Bone abnormalities such as hooked nose, pigeon breast and funnel breast
  • Frequent loose stools and urinary tract blockages
  • Mild intellectual disability
Autosomal dominant
  • Skin changes may begin at any age
  • Loose hanging skin may be the only feature
  • Facial involvement is universal
  • Systemic involvement is uncommon
Autosomal recessive (types I and II)
  • Symptoms and signs usually begin in infancy
  • Loose skin
  • Bone abnormalities (e.g. delayed joining of skull bones, hip dislocation, spinal curvature)
  • Emphysema (lung disease causing breathlessness)
  • Hernias
  • Diverticula (outpouching) in the oesophagus, duodenum and bladder
  • Aortic aneurysm (bulging aorta, the main artery leaving the heart)
Type I:
  • Severe form
  • Present at birth
  • Emphysema early in life
Type II
  • Growth retardation
  • Usually present at birth
  • Severe over hands, feet and abdomen
  • Bilateral congenital dislocation of hips

The features of acquired cutis laxa are mainly loose skin, especially in areas of previous inflammation. It has also occurred in association with complement deficiency (C3 and C4), systemic lupus erythematosus, sarcoidosis, multiple myeloma and systemic amyloidosis.

Skin features of cutis laxa

Any part of the body can be affected. In inherited forms of cutis laxa, the loose skin appearance is most prominent around the eyes, face, neck, shoulders and thighs. The skin features include:

  • Loose, inelastic and hanging folds of skin
  • Loose hanging skin around the face and neck giving the bloodhound appearance and patient appearing much older than he/she actually is
  • Reduced elastic recoil when skin is stretched.

How is cutis laxa diagnosed?

Cutis laxa is usually diagnosed clinically, because of its unique clinical features. The pathology of cutis laxa on skin biopsy may be helpful.

What is the treatment for cutis laxa?

There is no specific treatment for cutis laxa or preventing the progression of the disease. Treatment is directed at managing any complications that may arise from associated internal organ involvement.

Cosmetic surgery to reduce redundant skin folds may be performed but often produces only temporary benefit. Patients with cutis laxa, particularly those with the autosomal dominant form usually have a normal life expectancy.




  • OMIM – Online Mendelian Inheritance in Man (search term Cutis laxa)
  • Book: Textbook of Dermatology. Ed Rook A, Wilkinson DS, Ebling FJB, Champion RH, Burton JL. Fourth edition. Blackwell Scientific Publications.
  • Cutis laxa — emedicine dermatology, the online textbook

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