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Recurrent cellulitis and bacteremia in a patient with Noonan syndrome: A case report.
Koike et al., J Infect Chemother 2023
DOI: 10.1016/j.jiac.2023.11.021
Oh, what a joyous day in the life of a 28-year-old man with Noonan syndrome (NS)—a genetic jackpot that just keeps on giving! This lucky fellow, who had previously hit the medical lottery with protein-losing enteropathy (PLE) and the bonus prize of intestinal lymphangiectasia, decided to grace the emergency department with his presence, showcasing a stunning collection of painful erythema. It’s like a fashion statement, but with skin inflammation.
Our protagonist, a veteran of the lymphaticovenular anastomosis (LVA) scene with not one, but two procedures under his belt, had also enjoyed a trilogy of cellulitis episodes in the past two years. This time, he was diagnosed with the ever-popular “extensive cellulitis with sepsis” combo and treated with the chic piperacillin/tazobactam, later switching to the more understated ceftriaxone. After a 13-day antibiotic spa retreat, he was sent home with a parting gift of low-dose trimethoprim-sulfamethoxazole (SMZ-TMP) for that pesky cellulitis that just kept coming back for encores.
Now, for those not in the know, NS is one of those trendy RASopathies, a group of conditions that are all the rage due to their connection to the RAS-MAPK pathway. It’s like the body’s own little soap opera of genetic mishaps. And guess what? Lymphedema, the body’s way of saying “let’s swell up like a balloon,” is a common sidekick for 20% of the NS crowd, setting the stage for cellulitis to crash the party.
But wait, there’s more! LVA, the surgical equivalent of trying to fix plumbing issues, has been strutting its stuff, showing off improvements in most patients. And for those who prefer a more modern approach, MEK inhibitors, the latest in molecular accessorizing originally designed for cancer treatment, have been making waves in the RASopathy fashion scene, potentially deflating lymphatic issues faster than you can say “rapid resolution of symptoms.”
So, let’s raise a glass to the wonders of modern medicine, where even the most complex genetic ensembles can be accessorized with a cocktail of treatments. Cheers to the relentless pursuit of medical breakthroughs, and to our patient, may his future be less inflamed and more fabulous!