Cutis Laxa
Cutis Laxa: Causes, Symptoms and Treatments
Cutis Laxa is disorder of the connective tissues that is rare. It is also known as Chalazoderma, Dermatomegaly, Generalised Elastolysis and Pachydermatocele. Cutis Laxa means loose skin in Latin. The skin is sagging and not stretchy. It will often hang in lose folds, which could leave the appearance of a droopy face or other parts of the body. On the neck, in the armpits and the groin, there may be extremely wrinkled skin. It effects 1 in 2,000,000 babies, or approximately 400 families worldwide. Most of the cases seen are inherited. Prognosis will depend on each individual case. Some effects are extremely mild, which only effect the individual’s looks, while others are fatal, effecting the internal organs. The complications of the disease is what makes it fatal, such as a ruptured aortic aneurysm. It is quite possible to live a full, normal life with Cutis Laxa.
Type of Cutis Laxa
There are many different kinds of Cutis Laxa. Those include Autosomal Dominant Cutis Laxa (ADCL). Under this disorder, symptoms can begin at any time between birth and young adulthood. For the disease to be present in an individual, only one copy of the defective gene is needed. The child has a 50% chance of inheriting the gene from either one of the parents. Under this form of Cutis Laxa, the skin can change at any age, while the only feature of the disorder could be the hanging skin. While it is uncommon for systemic involvement, facial involvement is universal. A normal life expectancy is expected.
X-linked Cutis Laxa is also a form of the disorder. Clinical features of this include loose skin, loose joints or joint hyper extensibility, mild mental retardation, and bone abnormalities, such as a crooked nose, pigeon breast, and funnel breast. There are frequent loose stools and urinary tract blockages. The defective gene will be located on the X chromosome.
The third kind of Cutis Laxa is known as autosomal recessive. In order for the disorder to be present, two copies of the defective gene need to be inherited from the parents. Symptoms and signs usually begin when the child is an infant. Loose skin, hernias, and emphysema are common. There are bone abnormalities, such as hip disclosure or spinal curvature, and diverticula in the bladder, esophagus, or duodenum can be seen. Aortic aneurysm can also be seen. Under autosomal recessive, there are two types, type I and type II. Type I is the severe form, which is present at birth and the individual will have emphysema early in life. Under type II, there is growth retardation, with the disorder being present at birth most of the time. There is a bilateral congenital dislocation of the hips, as well as severe loose skin over the hands, feet and abdomen.
What to do if you Suspect you Have Cutis Laxa
If Cutis Laxa is suspected in an individual, the skin will be examined by a doctor. Loose, hanging skin will be looked for, as well as skin folds around the eyes, face, neck, shoulders and thighs. A skin biopsy can be done. Other testing can involve chest X-rays, blood tests, an echo cardiogram, and a pulmonary function test.
Cutis Laxa Treatments
Treatments for Cutis Laxa are often personalised with each individual. Individuals may see a cardiologist, dermatologist, internist, pulmonologist, and geneticists for treatment. Surgery may be used to tighten the skin, and medication could be prescribed. Many times those with Cutis Laxa are prescribed dapsone.
There is no way currently to prevent Cutis Laxa. Genetic counseling can be sought if anyone has a family history of Cutis Laxa. Since there is no known direct cause, no preventative measures can be taken.
Is this the skin disorder that makes one look much older than they are? I have seen different children on TV and online that have a skin disease, and they have extreme wrinkles in their faces and look like little old people. Is Cutis laxa this skin disorder that does that to these individuals, or am I thinking of a different skin disorder? Because everything that I have read about cutis laxa states that the individual looks much older then they are due to loose skin and wrinkles.
I have heard that some opt to have plastic surgery for their loose skin. Is this a good option to do if you have cutis laxa? How good are the results? Are they permanent? Or how often would someone need to have plastic surgery to help with the sagging skin? I have a lot of questions because my friend has cutis laxa and he has never said anything about plastic surgery but I have been doing some research on it for him. He is living a normal life right now, and it has not effected his organs. I just wondered if plastic surgery would be for him since the sagging skin does bother him some.
I would like to say that I have done quite a bit of research on cutis laxa. X linked cutis laxa can also be called Occipital Horn Syndrome (OHS), which is extremely rare. Less than 100 cases have been reported in the world. This is a disorder that involves the cell’s inability to obtain enough copper. Copper is needed for the body to have proper use of enzymes within the different cell types (bone, skin, and hair). It most commonly effects males.
I wondered if it was more common for females to have this rare disorder, since they have two X chromosomes and males only have one? It seems to me like it would be more common in females, but I have never read anywhere that it was more common.
Symptoms will often develop when one has cutis laxa after they have been sick with a severe illness. They may have been throwing up, with a fever, with an inflammation of the organs, such as the heart. This is how we discovered my little brother had cutis laxa. He got really sick, had a high temp and had not been able to keep anything down. He went to the doctor and they diagnosed him with cutis laxa after examining the skin. The doctor did not do a biopsy as he was positive that it was cutis laxa. His skin is loose now, but we work very closely with all our doctors to make sure that all is well with him. Each treatment for everyone that has this disorder is different, so what works on my younger brother might not work on another person. It is imperative that he stays out of the sun, which is very damaging to his skin.
I have recently seen a young teenager with cutis laxa in Wetherill park, the skin on his face is severely sagging and I really sympathise for this young teenager. Especially so that he can live a normal life. Are there doctors that can do this for free, can medicare cover this condition. Surely surgeon doctors in Australia can sympathise and help this teenager with the excess skin folds on his face, so that he at least can eat/drink. The excessive skin folds even covers one of his eyes. I really would like to get this teenager some help. I am keen to find out if surgeon’s can help this teenager in Sydney, Wetherill park, Australia.
There is a male in our community that has cutis laxa. Right now they are doing fundraisers for him due to the extreme medical bills they have. He had a hernia removed about a month ago. He goes to see a cardiologist on a regular basis, to keep on top of the disease as his family is worried it will damage his heart. They are also experimenting with medications to prevent the growth of any aortic aneurysms.
Do they test for this before a child is born? Are they able to do molecular testing to see if a child would happen to have this disorder? And does anyone know if one is working on a cure for this or not? You would think that if there were severe enough cases, they would be doing research on it to make sure that no one has to suffer from this disorder.