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.