Rare Diseases
Latest News
Genomic screening of healthy newborns gets more popular
For now, the findings on the psychosocial effects of general newborn genomic screening show that “we should consider genetics to be just one more...
Conference Coverage
Validity of commercial serologic tests for dermatomyositis still questionable
“The testing in research laboratories is not widely available and the results are often delayed by weeks to months.”
Conference Coverage
Drug combo at outset of polyarticular JIA benefits patients most
Despite the wariness that some families and even providers have about starting JIA therapy with both a biologic and conventional DMARD, new data...
Latest News
Expected spike in acute flaccid myelitis did not occur in 2020
COVID-19 interventions may have reduced transmission of the associated enteroviruses.
Conference Coverage
Evaluations of novel approaches to treating NF-1 tumors are underway
“We need a way to inhibit the cutaneous neurofibromatosis early in life and prevent disfigurement that occurs when kids become adults.”
Conference Coverage
Clinical genetic testing for skin disorders continues to advance
“The current staple of molecular diagnostic testing is multigene next-generation sequencing (NGS) panels, which allow you to interrogate two to...
Conference Coverage
Targeted therapies for vascular anomalies continue to be refined
The goal of future drug therapies is to support normal growth, “so we don’t need a maximum tolerated dose,” Dr. Denise Adams said.
Latest News
FDA approves first once-weekly growth hormone for children
The heiGHt trial demonstrated noninferiority of lonapegsomatropin to somatropin daily injections.
Conference Coverage
Genetic testing for neurofibromatosis 1: An imperfect science
“If you fulfill diagnostic criteria for NF1, the main reasons for doing genetic testing are, one, if the family wants to know that information,...
Conference Coverage
Autoinflammatory diseases ‘not so rare after all,’ expert says
“Dermatologists are in a unique position because they will often be the first specialist to see these patients and therefore make the diagnosis...
Conference Coverage
Several uncommon skin disorders related to internal diseases reviewed
Dermatologist discusses sarcoidosis, Rosai-Dorfman disease, Erdheim-Chester disease, and more.