Did you know the “Inelastic Man” ?
The term of inelastic man refers to patient with cutis laxa. Patients develop a prematurely aged appearance.
What is Cutis Laxa ?
A series of rare disease that damage your connective tissue together go by the term of “cutis laxa.” Your muscles, joints, skin, and organs are all structured by this tissue.
Cutis laxa, which means “lax skin” in Latin, refers to loose skin. Skin that is drooping, wrinkled, and non-elastic is a sign of cutis laxa diseases. The skin slides unnaturally slowly back into place when stretched. A lot of the skin is drooping.
How is Cutis Laxa Happened ?
The majority of cutis laxa types are hereditary and present at birth along with other diseases, however other forms can arise later in life.
Cutis laxa has an underlying aetiology that is unknown and possibly varying. Elastin gene alterations that are inherited are the majority cause of cutis laxa. Your body will struggle to produce the protein elastin if these genes alter. These proteins make up a large portion of the elastic fibres that make up your connective tissue. Either the elastin won’t function correctly or there won’t be enough.
The following are those most frequently mentioned in literature:
- Reduced serum elastase inhibitor level.
- Low lysyl oxidase activity.
- Increased elastase activity.
- Post Inflammatory elastolysis.
- Immune-mediated mechanism.
- Decreased expression of the elastin gene.
- Abnormal copper metabolism or copper deficiency.
Who can Get Cutis Laxa ?
Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist.
Cutis laxa affects persons of all races and affects men and women equally. The autosomal dominant form has a later onset than the autosomal recessive form. Acquired cutis laxa may develop at any age, but it often begins in adulthood.
What are the Types of cutis laxa ?
The four main types of cutis laxa are:
Autosomal Dominant
One copy of an abnormal gene, which you can inherit from either parent, causes autosomal dominant cutis laxa (ADCL). Your offspring will have a 50% probability of developing dominant cutis laxa if you do. ADCL result from spontaneous gene mutations that occur at random. These kinds of mutations, often known as de novo mutations, are not inherited.
Autosomal Recessive
When both of your parents pass on the same atypical gene to you. You will carry the recessive cutis laxa gene but may not exhibit any symptoms if you acquire one regular copy of the gene and one abnormal gene. 25% of your kids will be at risk for the disease.
X-linked Recessive
The occipital horn syndrome is another name for the X-linked variant. It is categorised as a copper transport illness. Low copper levels make it difficult to convert elastin proteins, which lowers elastin levels in the skin.
Acquired
You can develop acquired cutis laxa, which indicates that you are not born with this ailment. According to some scientists, under these circumstances you probably already have the gene, which is turned on later by a trigger.
What are the Clinical Manifestations ?
Cutis laxa symptoms vary widely and can be different even between family members.
Skin
- Skin that loose, inelastic, and hangs in folds
- Skin fragility, easy bruisability, and poor wound healing
- Skin that looks droopy or wrinkly
- Looking older than actual age
- Loose appearance is most prominent around the eyes, the face, the neck, the shoulders, and the thighs.
Gastrointestinal tract
- Diverticula of the small and large bowels
- Rectal prolapse may occur
Skeletal
- Osteoporosis and other skeletal abnormalities
- Flat feet
- Loose joints, sometimes called double jointness
Cardiovascular and Pulmonary
- Bronchiectasis and Emphysema
- Cardiomegaly, Congestive heart failure, Cor pulmonale
- Aortic aneurysms
Other
- Umbilical, inguinal, hiatal hernia
What Are the Treatments ?
There is no cure for cutis laxa currently or any treatments that prevent the disease.
Treatment for cutis laxa focuses on symptom management and associated disorders. These include:
- Hernia surgery
- Swelling medication
- Beta-blockers for heart issues
- Corticosteroid Inhalers for emphysema
- Physical therapy
- Plastic surgery to remove excess, loose skin, but the results are just temporary since the skin grows back.
- Botulinum toxin injections for improving the aged appearance and facial defects
- To control your symptoms, it’s crucial to schedule routine doctor’s visits.
What is the Outlook for People with Cutis Laxa ?
The lifespan of some patients with cutis laxa (elastolysis) may not be significantly decreased. Patients with the autosomal dominant form have a normal life expectancy. The autosomal recessive form is often associated with severe internal complications.
If you find one of those who have the symptoms of Cutis Laxa, you can consult to physician or dermatologist. Genetic counseling is recommended for cutis laxa patients and their families.
People who suffer Cutis Laxa have psychosocial impact, they need full family support and recommended to join support group such as Cutis Laxa Internationale. Patient need regular appointments with doctors to manage the specific symptoms
Therefore, early detection, comprehensive treatment and interprofessional healthcare team is needed to treat Cutis Laxa.
References :
Beyens, A, Boel, A, Symoens, S, Callewaert, B. Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. Clinical Genetics. 2021; 99: 53–66.https://doi.org/10.1111/cge.13865
Dailymirror. “The Heartbreaking Reality behind These ‘Benjamin Button Children.’” Mirror, 3 Feb. 2016, www.mirror.co.uk/news/world-news/benjamin-button-children-suffer-rare-7298679.
Gara S, Riley CA, Litaiem N. Cutis Laxa. [Updated 2022 Sep 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532944/
Kang, Sewon. Fitzpatrick’s Dermatology 9th Edition. 2019. McGraw Hill: USA.
Kun, Yang, Shi Mengdong, et al. “Congenital Cutis Laxa: A Case Report and Literature Review.” Frontiers, 15 Feb. 2022, www.frontiersin.org/articles/10.3389/fsurg.2022.814897/full.
Whitten,Cheryl. “Cutis Laxa: Types, Symptoms, and Treatments.” WebMD, www.webmd.com/skin-problems-and-treatments/what-is-cutis-laxa. Accessed 9 Aug. 2023.