Cutis Laxa

What happens in cutis laxa

Elastic fibers, made mainly of the protein elastin with fibrillin and fibulin scaffolding, allow skin, lungs and blood vessels to stretch and recoil. In cutis laxa these fibers are reduced, fragmented or abnormal. Skin becomes loose and droops, and other elastic tissues can lose their recoil. Unlike in Ehlers-Danlos syndrome, the skin is not fragile or overly stretchy: it is loose and slow to return, like an oversized coat.

Types of cutis laxa

Acquired cutis laxa

Acquired cutis laxa develops in previously normal skin, sometimes after:

• inflammatory skin rashes, hives or swelling (Marshall syndrome in children)
• certain medicines, such as penicillamine or isoniazid
• autoimmune diseases such as lupus and celiac disease
• multiple myeloma, MGUS and other plasma cell disorders
• infections

It may be localized or generalized and can involve internal organs.

Symptoms

Skin

• loose, sagging, wrinkled skin that hangs in folds, often on the face, neck, armpits and groin
• a prematurely aged or "droopy" facial appearance, drooping eyelids and cheeks
• skin that returns slowly when pulled, but is not fragile and heals normally

Internal organs

• lungs: emphysema, causing breathlessness, sometimes from infancy in recessive forms
• hernias: inguinal, umbilical and diaphragmatic (hernia)
• blood vessels: aortic aneurysm, tortuous or narrowed arteries
• heart: valve prolapse or leakage
• gut and bladder: diverticula (pouches), rectal and uterine prolapse
• joints: looseness and dislocations in some types
• development: delays in some recessive types

Diagnosis

• Clinical examination of skin and joints.
• Skin biopsy with special stains showing reduced and fragmented elastic fibers.
• Genetic testing with a connective tissue gene panel or exome sequencing.
• Organ assessment: echocardiogram and vascular imaging, chest imaging and lung function tests, and, depending on type, abdominal and urinary tract imaging.
• Blood tests in acquired forms to look for plasma cell disorders and autoimmune conditions.

Cutis laxa can be confused with Ehlers-Danlos syndrome, where skin is hyperextensible and fragile and snaps back, and with pseudoxanthoma elasticum, where loose skin is limited to flexural areas with yellowish bumps.

Treatment

There is no cure. Care focuses on monitoring and treating complications:

• regular heart, aortic and lung monitoring, frequency depending on type
• avoiding smoking, which accelerates emphysema
• inhalers and pulmonary rehabilitation for lung disease
• hernia and prolapse repair
• blood pressure control and surgery for aortic aneurysms
• developmental and physical therapy in recessive types
• treating the underlying cause in acquired cutis laxa
• cosmetic surgery such as facelifts and eyelid surgery to remove excess skin. Results may be temporary because skin can loosen again, and in acquired forms surgery is usually delayed until the condition is stable

Sun protection and avoiding unnecessary skin trauma are sensible general measures.

Outlook

The outlook depends strongly on the type. Autosomal dominant cutis laxa is usually compatible with normal life expectancy, though monitoring for aortic and lung problems is advised. Some autosomal recessive forms cause severe lung and vascular disease in infancy. Genetic counseling is important for families.

Frequently asked questions

What is cutis laxa?

Cutis laxa is a rare connective tissue disorder in which the skin is loose, sagging and inelastic because elastic fibers are defective. It is usually inherited and present from birth or childhood, but can also be acquired in adulthood. Some forms affect the lungs, heart, blood vessels and gut.

What causes cutis laxa?

Inherited forms are caused by changes in genes involved in elastic fibers, such as ELN, FBLN5, LTBP4 and ATP6V0A2. Acquired cutis laxa can follow inflammatory rashes, certain medicines like penicillamine, autoimmune diseases or blood disorders such as multiple myeloma.

How is cutis laxa different from Ehlers-Danlos syndrome?

In cutis laxa, skin is loose and hangs in folds but is not fragile, and it returns slowly when stretched. In Ehlers-Danlos syndrome, skin is very stretchy, snaps back quickly and is often fragile, bruising and scarring easily. The genes and internal complications also differ.

Can cutis laxa be treated?

There is no cure, but complications can be managed: monitoring and treating heart, aortic and lung problems, repairing hernias, and supportive therapies. Cosmetic surgery can improve the appearance of loose skin, though results may not be permanent.

Is cutis laxa life-threatening?

It depends on the type. Mild autosomal dominant forms usually have a normal life expectancy with monitoring. Some recessive forms cause serious emphysema, artery and heart problems early in life. Regular specialist follow-up helps catch complications early.