Cutis Laxa

Definition
Cutis Laxa (also called elastolysis), which is Latin for loose/lax skin, is a
disorder that affects every 1 in every 2 000 000 individuals worldwide. It is a
disease usually characterised by the unusual inelasticity of the skin. The
sufferers skin hangs in loose folds. It is usually an inherited condition, but some
people may develop this disease later in life. This condition is known as acquired
Cutis Laxa.
Etiology
Cutis Laxa is inherited in various ways, each with their own characteristics.
There are autosomal dominant, autosomal recessive, and X- linked recessive
forms of Cutis Laxa inheritance. There have also been instances where the
acquisition of Cutis Laxa occurred as a result of chelation therapy for Wilsons
disease, as well as by the result of other anomalies, such as extensive
inflammatory skin diseases. Under the latter circumstances, the disease is known
as Acquired Cutis Laxa.
1. Autosomal Dominant Cutis Laxa
Symptoms begin anywhere between birth and young
adulthood.
Family usually have a history of cardiovascular and
pulmonary problems, such as aortic aneurisms.
Loose hanging skin is usually the only feature.
Usually results from a mutation of the elastin (ELN)
gene, but there have been less frequent instances of
ADCL occurring due to the mutation of the fibulin
5(FBLN5) gene.
Patients that procreate have a 50% chance of passing
it down to their child.
2. Autosomal Recessive Cutis Laxa
Divided into six different sub-types, depending on
the gene affected.
ARCL1A-Mutation of the Fibulin 5(FBLN5) gene results
in Cutis Laxa accompanied by hernia and
emphysema
ARCL1B-Mutation of the FBLN4 gene results in Cutis
Laxa accompanied by complications of the
cardiovascular system, bone fragility, contortion of
facial features, and loose joints. Usually
accompanied by death soon after birth.
ARCL1C- Gene mutation resulting in Cutis Laxa
accompanied by urinary, gastrointestinal and
pulmonary complications.
ARCL2A- Gene mutation resulting in Cutis Laxa
accompanied by wrinkly skin (which improves with

age), dislocation of hips (present at birth), hernias

and near-sightedness.
ARCL2B- Gene mutation resulting in Cutis Laxa
accompanied by an aged appearance, growth and
developmental delay, and joint problems.
ARCL3- AKA De Barsy Syndrome has similar features
with ARCL2A and ARCL2B, in addition to the presence
of Cutis Laxa. Sufferers of De Barsy syndrome have
been known to have a combination of multiple gene
mutations that characterised, singly, the other five.
3. X- Linked Cutis Laxa/ Occipital Horn Syndrome
Characterised by loose skin, loose joints (hyper
extensibility), bone abnormality, loose stool and mild
mental retardation.
Abnormal elastin metabolism, resulting in marked
reduction of dermal elastin content.

Disease caused by mutation of the ATP7A gene in

the X chromosome, preventing copper transport
required for proper enzymatic function in the dermal
layer.
Typically only affects males, since females would
almost always carry a functional copy of this gene on
their other X chromosome.
Carrier women, given that their husband is healthy,
would make daughters that are also carriers, but
their sons would have the disease. A male with OHS,
given that his wife is healthy, would give rise to a
carrier daughter, but a potential son would be
perfectly healthy, since his only X chromosome
would come from his mother.
Signs and Symptoms of Cutis Laxa

Loose, Wrinkled, Sagging and Redundant skin

Excessively aged in appearance
Inelasticity when pinched
Hyperextension of joints

Diagnosis
The preliminary diagnosis of Cutis Laxa may be made by an expert physician
upon examination due to characteristic signs and symptoms. However, this may
be confirmed by a blood test, gene examination or biopsy.

Treatment and Management of Cutis Laxa

To date, there is neither cure nor treatment available; however, persons suffering
from Cutis Laxa may be treated with dapsone to control swelling as it is a
sulphone with anti-inflamitory properties. Otherwise, the swelling may lead to
further sagging.
Management of Cutis Laxa includes cosmetic surgery to remove unaesthetic
sags (especially on the face) and monitoring of smooth muscles and cardiac
tissue. Patients are also encouraged to avoid smoking, alcohol consumption and
prolonged exposure to the sun as these activities may lead to dehydration and
further dermatological complications.

Dapsone. (Oct 1st, 2015). Cerner Multum. Retrieved September 2015 from
http://www.drugs.com/cdi/dapsone.html
Cutis Laxa.( 20 February 2015). Rachel Nall. Retrieved September 2015 from
http://www.healthline.com/health/cutis-laxa#Overview1
http://cutislaxa.pitt.edu/faq.php
http://dermnetnz.org/dermal-infiltrative/cutis-laxa.html