RESUMO
Hyper immunoglobulin D Syndrome (HIDS) is a rare autosomal recessive disease often presents during infancy. The disease is caused by an abnormal gene that codes for mevalonate kinase (MVK). This results in recurrent fever episodes and gastrointestinal discomfort (including diarrhea, joint pain, and oral sores). High fever is the most common symptom, occurring every few weeks to months. Patients may also have other findings, including lymphadenopathy and arthralgia. In this report, we discuss a rare diagnosis of HIDS is an adult and discuss our case in the context of existing literature. Given the nonspecific symptoms and the fact that it is often diagnosed in childhood, HIDS can be a challenging but essential diagnosis in adults with persistent, cyclical fevers.
RESUMO
Ibrutinib is Burton's tyrosine kinase inhibitor used in the treatment of chronic lymphocytic leukemia and other conditions. This drug has been generally thought to be well tolerated, although studies have identified a few distinct adverse effects, including gastrointestinal discomfort, nausea, diarrhea, and atrial fibrillation. Regarding cutaneous findings, ibrutinib has only been linked to two self-limiting forms of mild rashes generally. In this report, we discuss a lichenoid drug reaction to ibrutinib in a patient with chronic lymphocytic leukemia severe enough to result in drug discontinuation. This adverse effect has not been previously reported to our knowledge.
RESUMO
The management of atopic diseases has been revolutionised by precision therapies and biological drugs that target specific immune proteins. This report elucidates a unique complication from the use of the monoclonal antibody, dupilumab, that primary care providers and subspecialists need to be aware of. A patient in her 40s consulted us for severe atopic asthma, food allergy and eczema involving the face and body. She had previously failed treatments and was started on dupilumab (which binds to the interleukin-4 [IL4] receptor and inhibits both IL-4 and IL-13). She quickly achieved remission of asthma, rhinitis and eczema. Therapy was, however, complicated by severe blepharoconjunctivitis, dry eyes and periorbital dermatitis, consistent with dupilumab-induced ocular surface disease and dupilumab-associated mucin deficiency. Following aggressive treatment of ocular disease, the patient was able to continue dupilumab injections for asthma and eczema. It is presumed that dupilumab-induced cytokine imbalance results in ocular goblet cell dysfunction, mucin deficiency and ocular disease.