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Rare disease leaves 43-year-old man with 'penile stump'

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It was supposed to a simple routine check-up, but ended up being so much more serious.
It was supposed to a simple routine check-up, but ended up being so much more serious.

When a 43-year-old man visited Flinders Medical Centre in South Australia for a routine dialysis appointment, doctors had to amputate the tip of his penis, reducing it to a "penile stump", according to a case report published in BMJ Journals.

Doctors discovered gangrene on the tip of his penis and, according to the report, the man’s flesh started to turn white with black spots. This left surgeons with no choice but to slice off the dead tissue to prevent the gangrene from spreading.

The man, who remains anonymous, was diagnosed with penile calciphylaxis, and is said to be lucky to have survived the condition, considering that it kills around six out of 10 patients. He developed the condition due to his underlying medical conditions, which include obesity, type 2 diabetes, high blood pressure and end-stage kidney disease. 

“The majority of patients who develop penile calciphylaxis progress to gangrene and sepsis,” the doctors wrote in the report, adding that it is is extremely rare and was first recorded in 1997. There have also only been 50 mentions of the condition in English-language scientific reports.

The plastic and reconstructive surgical unit had to step in for the reconstruction of the man’s penile stump, which included “two skin grafts using foreskin”. His wound had completely healed two months after the final operation.

However, the report further mentions that the calciphylaxis continued to develop in his body, which meant that he had to have part of his large intestine removed a year later, but, despite the grim diagnosis, surgery and recovery, the man “remains alive”. 

What is calciphylaxis?

Calciphylaxis is a rare and often fatal kidney-related disease. It happens when calcium accumulates in small blood vessels in the skin, and cuts off circulation. It is generally seen in patients with kidney failure, explains the National Kidney Foundation (NKF), but other risk factors include obesity, chronic kidney disease, and hypercalcaemia.

The condition can result in painful skin ulcers, infections and even organ failure. Blood circulation is cut off and flesh is unable to receive oxygen, leading to ulcers, and skin and tissue rotting – a condition known as gangrene. 

The BMJ report mentions that penile calciphylaxis is a clinically challenging condition to manage and that, while there are several treatment options that have been proposed, the underlying evidence is anecdotal, and the overall prognosis still remains very poor. 

Nearly all sufferers who develop penile calciphylaxis progress to gangrene and sepsis, the doctors wrote in the report. The condition has a mortality rate of 64%, and a life expectancy of less than three months. 

Dr Sagar Nigwekar, a nephrologist and Assistant in Medicine at Massachusetts General Hospital and an Instructor in Medicine at Harvard Medical School, is on the frontline of researching calciphylaxis, and told the NKF that the disease has been observed for over 50 years, but that there is no effective treatment as yet.

“As we map the biology, risk factors, prevention and eventually, treatment of calciphylaxis, we believe it will lead to a number of advancements in understanding the mechanisms of vascular calcification," he explains.

Image credit: Getty

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