Doctors have snapped a picture of a 27-year-old man with a rare and unusual “elastic” skin syndrome.
The image published in The New England Journal of Medicine (NEJM) shows the patient’s torso with numerous skin folds visible. The patient, who hails from the Middle Eastern nation of Oman, has been diagnosed with a condition resembling an inherited condition known as Pseudoxanthoma elasticum (PXE). This rare condition affects the connective tissues in some parts of the body.
In PXE, deposits of calcium and other minerals accumulate in elastic fibers. These fibers are part of the connective tissue that gives strength and flexibility to structures throughout the body.
The condition can affect elastic fibers in the skin, eyes, and blood vessels, and less commonly in places like the digestive tract.
The first sign of PXE is usually the appearance of small, yellowish bumps called papules on the neck, armpits, and other areas of skin that touch when a joint flexes.
When these bumps combine, the skin in the affected areas can become loose and wrinkled. People with PXE also have an increased risk of eye abnormalities and cardiovascular disease.
Overall, however, PXE is a “relatively benign condition,” said Dr. Manish Kumar, an author of NEJM Article narrated at Sultan Qaboos Hospital in Salalah, Oman news week.
PXE is rare, affecting about 1 in 50,000 people worldwide, according to figures from the US National Library of Medicine. It is seen almost twice as often in women as in men.
The classic presentation of PXE is caused by mutations in the ABCC6 gene, which contains instructions for making a specific protein called MRP6. But the medical literature also documents cases of patients with no evidence of mutations in ABCC6 who have disorders that appear very similar to PXE. This is also the case with the 27-year-old patient from Oman.
This patient was referred for genetic testing due to concerns about PXE. On physical examination, doctors observed loose folds of skin on her arms, abdomen, and armpits.
Kumar and his colleagues performed blood tests and molecular analyses. They found no evidence of the genetic variant that causes PXE. But the results suggested the patient may have a “Pseudoxanthoma elasticum-like” syndrome.
In that case, Kumar said there was “no danger” for the 27-year-old patient at the time, although he will need follow-up visits to monitor the development of any potential heart or eye problems. “I’ve never seen a situation like this,” he said.
There is no cure for PXE, but treatments are available for some of the symptoms.
