Job syndrome or hyper-immunoglobulin E syndrome is one of the rare immunologic diseases with only about 300 cases described in the literature until now. Given their low prevalence, our understanding of both autosomal dominant and recessive Job syndromes is still evolving. No specific treatment options are available but early diagnosis may help in treating cases prophylactically with antibiotics and wound care to reduce the patient's burden. We recently encountered a patient diagnosed with Job syndrome with autism who presented with an abscess in the right axillary region. We report this case for its rarity and unique association with developmental neurologic disorder. It is crucial to review this rare syndrome to circumvent any diagnostic delay. Following the disease course and taking all the associations into account is also vital for the clinician's understanding as well as implementing the treatment plan.
Ketone-prone diabetes or Flatbush diabetes is being increasingly recognized worldwide. It is typically seen in obese middle-aged men with a family history of Type 2 DM. Atypicality in the onset of age and gender variation is increasingly observed worldwide. Predisposition to glucose desensitization is one of many unclear pathophysiologic mechanisms which is why extensive studies are obligatory. After intensive insulin therapy, many patients eventually become insulin-independent and attain euglycemia with oral hypoglycemic agents or with diet alone due to the recovered functionality of pancreatic beta cells. Our report sheds light on the atypicality of presentation and summarizes the main diagnostic features of this rare form of diabetes. Increased awareness of this entity can facilitate early diagnosis and management.
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