Rare Diseases
Conference Coverage
Care of infants with ichthyosis requires ‘all hands on deck’
The neonatal period and early infancy are especially critical for patients with ichthyosis, because compromised barrier function increases risk...
Conference Coverage
Precise cause of pityriasis rosea remains elusive
Pityriasis rosea was recognized as early as 1798, yet its precise cause remains elusive.
From the Journals
Studies support early use of genetic tests in early childhood disorders
Two studies find that early use of whole-exome sequencing and other genetic tests spares resources and improves diagnostic yields in disorders...
Conference Coverage
Bone marrow transplantation for epidermolysis bullosa continues to evolve
Today, bone marrow transplantation is the most widely used stem cell therapy for patients with severe EB.
Conference Coverage
Many aspects to caring for epidermolysis bullosa patients
CHICAGO – An expert describes treatment options for the symptoms considered most bothersome by patients with recessive dystrophic epidermolysis...
Conference Coverage
Supportive care alone linked to worse outcomes in mucocutaneous reactions
CHICAGO – Supportive care and surgical debridement may not be enough when treating pediatric patients with SJS/TEN.
Conference Coverage
Gene therapy for spinal muscular atrophy shows promise in early study
BOSTON – Early data show remarkable results for a gene therapy with few adverse events, in a phase I study.
Conference Coverage
MV disease in children requires modified strategies
NEW YORK – Growth and anatomy challenge pediatric mitral valve repair.
News
FDA approves Rebinyn for hemophilia B treatment
Rebinyn is intended to control and treat bleeding episodes, as well as provide perioperative management of bleeding.
Conference Coverage
Nusinersen for early spinal muscular atrophy: Final findings beat interim results
BOSTON – But the drug costs $750,000 a year, and questions remain about its use.
News from the FDA/CDC
New device that treats esophageal atresia in infants has been authorized
The FDA has authorized an esophageal atresia treatment device.