Strange Image Shows Man, 27 With Rare, Mysterious 'Elastic' Skin Syndrome

Doctors have captured an image 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 folds of skin visible. The patient, who is from the Middle Eastern nation of Oman, was diagnosed with a condition similar to an inherited disorder known as Pseudoxanthoma elasticum (PXE). This rare disorder affects the connective tissue in some parts of the body.

In PXE, deposits of calcium and other minerals accumulate in elastic fibers. These fibers are a component of the connective tissues, which provide strength and flexibility to structures throughout the body.

The condition can affect elastic fibers in the skin, eyes and blood vessels and less frequently in places such as the digestive tract.

Man with a “Pseudoxanthoma elasticum-like” syndrome
An image of a 27-year-old patient with a condition similar to an inherited disorder known as Pseudoxanthoma elasticum. Doctors observed loose folds of skin across the man's arms, abdomen and armpits. The New England Journal of Medicine ©2023

The first sign of PXE is usually the appearance of small, yellowish bumps called papules on the neck, underarms and other areas of skin that touch when a joint bends.

When these bumps join together, 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, though, PXE is a "relatively benign condition," Dr. Manish Kumar, an author of the NEJM article who works at Sultan Qaboos Hospital in Salalah, Oman, told Newsweek.

PXE is rare, occurring in approximately one in 50,000 people worldwide, figures from the U.S. National Library of Medicine show. It is seen almost twice as frequently in females as in males.

The classic presentation of PXE is caused by mutations in the ABCC6 gene, which provides 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 conditions that appear very similar to PXE. This is the case with the 27-year-old patient from Oman.

This patient was referred for genetic testing because of concerns about PXE. On physical examination, doctors observed loose folds of skin across his arms, abdomen and armpits.

Kumar and his colleagues conducted blood tests and molecular analyses. These found no evidence of the genetic variant that causes PXE. But the results suggested that the patient might be suffering from a "Pseudoxanthoma elasticum–like" syndrome.

In this case, Kumar said, there was "no danger" to the 27-year-old patient at this point, although he will require follow-up visits to monitor the development of any potential heart or eye problems. "I have not seen such a condition before," he said.

There is no cure for PXE, but treatments are available for some of the symptoms.