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this rare disease makes the skin elastic

Today, in Bizarre Patient, a patient whose skin is totally distended, almost elastic, due to a rare disease.

A 27-year-old man presents to Sultan Qaboos Hospital in Salalah, a town in the southern Sultanate of Oman with very poor blood results. He was treated for a coagulation problem in the hematology department, but the doctors immediately noticed the unusual appearance of his skin. She is distended, very elastic and seems too big for her build. This is especially noticeable on his torso and armpits. The man says his skin has been like this since he was a teenager, his sister’s too.

The patient actually suffers from a deficit of several proteins involved in coagulation. He also underwent genetic tests to understand the origin of his condition – his sister being also concerned, it could be a hereditary disease. A congenital deficiency of vitamin K-dependent coagulation factors was detected, but no genetic abnormality typical of pseudoxanthoma elastica.

A rare disease of genetic origin, but not always

Indeed, his coagulation problem and the elastic appearance of his skin are two elements that suggest that he suffers from pseudoxanthoma elastica, a rare metabolic disease that affects approximately 150,000 people worldwide. It is caused by genetic mutations in the ABCC6 gene. The two most common variants were only identified in 2000. The protein encoded by ABCC6 is a small transporter located in the liver which, through a cascade of reactions, is involved in the calcification process. Patients with elastic pseudoxanthoma suffer from a calcification deficit.

In these patients, the skin is covered with yellow patches at the level of the folds and the surface of the eye takes on an “orange peel” appearance. Both of these symptoms are absent in the young Omani, as is the genetic abnormality in the ABCC6 gene, which prompted doctors to diagnose him with a variant of pseudoxanthoma elastica. No specific treatment for this patient, doctors will give him prothrombin if he suffers from bleeding that does not clot in the future.

Written by Emilie Grenaud

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