Doctors Capture Images of the Loose Skin of a 27-Year-Old Man with a Rare “Elasticity” Syndrome.
Loose skin forming large folds in a 27-year-old patient in Oman. (Photo: NEJM).
The images published in the New England Journal of Medicine (NEJM) show that the upper body of the patient has skin that has sagged into large folds. This patient, residing in the Middle Eastern country of Oman, has been diagnosed with a condition similar to a genetic disorder known as Pseudoxanthoma elasticum (PXE). This rare disorder affects connective tissue in various parts of the body.
In individuals with PXE, calcium deposits and other minerals accumulate in the elastic fibers of the skin. These fibers are a component of connective tissues, providing strength and flexibility to structures throughout the body.
This condition can affect elastic fibers in the skin, eyes, and blood vessels, and is less commonly found in areas such as the digestive tract.
The first sign of PXE is often the appearance of small, yellowish bumps on the neck, armpits, and other areas of skin that experience frequent friction.
As these bumps merge into larger patches, the skin in the affected areas may become loose and wrinkled. Individuals with PXE are also at increased risk for eye abnormalities and cardiovascular diseases.
However, Dr. Manish Kumar at Sultan Qaboos Hospital stated that generally, PXE is a relatively benign condition. Data from the U.S. National Library of Medicine indicates that PXE is quite rare, occurring in about 1 in 50,000 individuals worldwide. The incidence rate in women is double that of men.
PXE is primarily caused by a mutation in the ABCC6 gene. However, medical literature also notes cases without ABCC6 mutations that present very similar conditions to PXE. This is the case for the 27-year-old patient from Oman.
Dr. Kumar noted that at this point, the health condition is not life-threatening for the 27-year-old in Oman. However, he will need regular check-ups to monitor any potential issues related to the heart or eyes. Currently, there is no cure for PXE, and treatment can only address some of the symptoms.
