Today, in Patient Bizarre, a patient whose skin is totally distended, almost elastic, due to a rare disease.
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A 27-year-old young man presented to Sultan Qaboos Hospital in Salalah, a city in the south of the Sultanate of Oman, with a very poor blood test. He was treated for a coagulation problem in the hematology department, but the doctors immediately noticed the unusual appearance of his skin. It seems distended, very elastic and seems too big for his build. This is especially noticeable on his chest and armpits. The man says his skin has been like this since he was a teenager, and that of his sister too.
The patient actually suffers from a deficiency of several proteins involved in coagulation. He also underwent genetic testing to understand the origin of his health condition — his sister is also affected, so it could be a hereditary illnesshereditary illness. A congenital deficiency of coagulation factors depending on the vitamin Kvitamin Kbut none anomalyanomaly typical genetics of pseudoxanthoma elasticum.
A rare disease of genetic origin, but not always
Indeed, his coagulation problem and the elastic appearance of his skin are two elements which suggest that he suffers from pseudoxanthoma elasticum, a rare metabolic disease which affects around 150,000 people around the world. It is caused by genetic mutations in the embarrassedembarrassed ABCC6. The two most frequent variants were only identified in 2000. The protein encoded by ABCC6 is a small transporter located in the liverliver which, through a cascade of reactions, intervenes in the process of calcificationcalcification. Patients with pseudoxanthoma elasticum suffer from a calcification deficiency.
In these patients, the skin is covered with yellow plaques in the folds and the surface of theeyeeye takes on an appearance Orange peelOrange peel “. These two symptomssymptoms are absent in the young Omani, as is the genetic anomaly in the ABCC6 gene, which prompted doctors to diagnose him with a variant of pseudoxanthoma elasticum. No specific treatment to manage this patient, doctors will administer prothrombin if he suffers from bleeding that does not clot in the future.
