Publications by authors named "I Frieden"

Genetically targeted medications are emerging as important therapies for lymphatic malformations (LMs) unresponsive to sirolimus. We describe two patients with EML4::ALK-positive LMs, one with Gorham Stout disease and one with a large genitourinary (GU) LM, who were successfully treated with ALK inhibitors. This report adds ALK inhibitors to the growing toolbox of molecularly targeted therapies for LMs.

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Article Synopsis
  • A study was conducted to compare infantile hemangiomas (IH) in preterm infants versus term infants, focusing on their clinical features and risks of scarring.
  • Results showed that preterm infants had a higher incidence of thicker and more irregular IH than term infants, with the severity correlating with how premature they were.
  • The study had limitations, including its retrospective design and potential bias from only including patients from specialized centers, indicating that findings may not apply to all cases.
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Article Synopsis
  • Parents often have mixed emotional reactions to congenital melanocytic nevi (CMN), experiencing feelings ranging from guilt to positivity.
  • Families with prior knowledge of CMN generally report lower stress levels and can benefit from dermatologist referrals for additional learning.
  • Dermatologists can enhance care by using open-ended questions to gauge family emotions and providing targeted information and resources early in the child's life.
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Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209.

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Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.

Study Design: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.

Results: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement.

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