Rare Diseases
Latest News
Expert gives tips on less-discussed dermatologic diseases
These diseases are important not to miss and can “also be quite challenging when we think about their management.”
From the Journals
VEXAS syndrome: More common, variable, and severe than expected
A large U.S. analysis found that this newly discovered genetic disease has a estimated prevalence of 1 in 4,269 in men older than 50.
Feature
Have you heard of VEXAS syndrome?
The prevalence of this syndrome is unknown, but it is not so rare.
Feature
Doctors urge screening for autoimmune disorders for patients with celiac disease
At least in some cases, people with one autoimmune disorder should be tested for others, celiac disease specialists say.
Case Reports
34-year-old man • chronic lower back pain • peripheral neuropathy • leg spasms with increasing weakness • Dx?
► Chronic lower back pain
► Peripheral neuropathy
► Leg spasms with increasing weakness
Conference Coverage
Combination therapy may boost remission in JIA
Study shows early methotrexate plus a biologic may aid remission and disease inactivity in pediatric polyarticular juvenile idiopathic arthritis...
Guidelines
First recommendations for cancer screening in myositis issued
The guideline, based on data from a systematic review and meta-analysis and on consensus from an international team of experts and patients,...
Latest News
Treating deadly disease in utero called ‘revolutionary’ advance
The patient in the new report received six prenatal enzyme-replacement therapy treatments.
From the Journals
Goodbye ‘diabetes insipidus’, hello ‘AVP-D’ and ‘AVP-R’
Confusion with the term ‘diabetes mellitus’ ... has spurred proposed name change by an international panel representing major endocrinology...
News
The broad and challenging – but promising – landscape of peripheral neuropathy
This review of peripheral neuropathy summarizes the more common causative entities, diagnostic tools, and treatments to prevent, slow, or reverse...
News
Spinal muscular atrophy: Patient care in the age of genetically targeted therapy
Newborn screening, updated treatment guidelines, and treatment algorithms have changed what can be clinically done for patients with SMA, but...