Rare Diseases
Commentary
Don’t Miss the Dx: A 24-Year-Old Man With Sudden-Onset Hematuria, Proteinuria, Edema, and Hypertension
The patient was diagnosed with complement 3 glomerulonephritis, which may have a genetic component.
Opinion
An 8-year-old girl presented with papules on her bilateral eyelid margins
Papules were slightly itchy but otherwise asymptomatic.
Commentary
Hereditary Amyloidosis: 5 Things to Know
A timely diagnosis requires clinicians to maintain a high index of suspicion, especially when evaluating patients with neuropathic symptoms.
Latest News
FDA Requests More Information for RDEB Rx Under Review
Pz-cel, which comprises autologous, COL7A1 gene–corrected epidermal sheets, is being evaluated for its ability to enable normal type VII...
Latest News
New Insight Into ‘Demon’ Facial Visual Perception Disorder
Researchers create images that depict PMO, a condition causing visual distortion of faces.
Latest News
Tooth Enamel Disorder Is a Feature of Kindler EB
All 11 patients with information on enamel structure in their records had pitted enamel anomalies, with variable severity.
Feature
Autoimmunity’s Female Bias and the Mysteries of Xist
Researchers are homing in on a long non-coding RNA, essential to X chromosome inactivation, as the culprit in sex-biased autoimmune diseases like...
Conference Coverage
Early Biologic Initiation Linked to Rapid Improvement of JIA, Sustained Remission
The findings have implications for insurance rules that require patients to take a conventional DMARD for a minimum period before initiating...
Latest News
PIK3CA-Related Overgrowth Spectrum (PROS): 5 Things to Know
Comprehensive and regular monitoring is essential to address the diverse and evolving clinical manifestations of PROS.
Latest News
When Should a Pediatrician Suspect a Rare Disease?
“Patients with rare diseases have common symptoms. What needs to be done is to prioritize those symptoms that behave abnormally, that have an...
News from the FDA/CDC
Second FDA-Approved Tocilizumab Biosimilar Has Intravenous, Subcutaneous Formulations
It’s unclear when the new tocilizumab products will be commercially available.