In this session, Adelaide A. Hebert, MD, shares some important pearls for evaluating rare pediatric disorders as well as new therapies for some of the most common ones. She begins by discussing helpful resources to confirm a diagnosis of icthyosis or epidermolysis bullosa (EB). Dr. Hebert then updates the audience on a new treatment for dystrophic EB, topical beremagene geperpavec, which was approved by the FDA in May 2022. Patients as young as 6 months old have been treated weekly without any safety concerns. Next, Dr. Hebert discusses the treatment of infantile hemangiomas, which, if left untreated, have the potential to cause complications such as severe consumptive hypothyroidism or breast hypoplasia depending on the location. She recommends treatment with propranolol between weeks 3 and 8 of life twice or three times daily after feeding with dosing of 0.5 mg/kg/day for week 1, 1.0 mg/kg/day for week 2, and 2.0 mg/kg/day for week 3.

Next, Dr. Hebert reviews PIK3CA-related overgrowth spectrum disorders. Alpelisib has shown promise in the treatment of PIK3CA-mutated, hormone receptor-positive advanced breast cancer. Alpelisib can also be used to treat Klippel-Trenaunay syndrome. However, Dr. Hebert emphasizes that you must monitor for hyperglycemia, pneumonitis, and severe diarrhea. She then discusses the efficacy of selumetinib for neurofibromatosis. In the clinical trials, 40% of patients had a partial response and 71% of patients had clinically meaningful improvement. The side effects are all dermatologic, ranging from dermatitis acneiformis to maculopapular eruption and eczema. Dr. Hebert finishes the session by discussing new investigational treatment options for molluscum contagiosum. This includes berdazimer gel 10.3% and VP-102 which have shown promise in phase 3 trials.