Rare Diseases
Opinion
An 8-year-old girl presented with papules on her bilateral eyelid margins
Papules were slightly itchy but otherwise asymptomatic.
Conference Coverage
For Pediatric LGS, Cenobamate Shows Promise
Small, uncontrolled study shows reductions in hospitalizations and emergency room visits, but limitations make the results difficult to interpret...
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
Gene Therapy for Dystrophic EB: Extension Study Results Reported
Patient-reported outcomes indicated that quality of life and satisfaction with treatment were preserved with continued treatment.
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...
From the Journals
Durable Tocilizumab Responses Seen in Trial Extensions of Polyarticular and Systemic JIA Subtypes
Patients with juvenile idiopathic arthritis achieved long-term disease control with subcutaneous tocilizumab treatment, without any new safety...
Latest News
CAR T-cell Trial for Children With Lupus Expected to Begin This Summer
The trial is expected to begin this summer and will enroll 12 individuals under age 18 years.
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.
Conference Coverage
Clinical Characteristics of Chronic Nonbacterial Osteomyelitis Can Predict Therapy Needs Over Time
Patients with unifocal disease at diagnosis may require shorter nonsteroidal anti-inflammatory drug monotherapy courses than those with multifocal...
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...