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Phenotypic Spectrum of GNA11 R183C Mosaicism.
Pediatr Dermatol
December 2024
Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.
Segmental vasoconstricted patches with a border of telangiectasia.
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May 2023
Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Nevus anemicus with immature melanogenesis and droplets of melanocytes in a patient with nevus anemicus, nevus flammeus, and mixed vascular nevus.
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Department of Dermatology, Kindai University Nara Hospital, Ikoma, Japan.
Neurofibromatosis Type 1: Diagnostic Timelines in Children.
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March 2023
Servicio de Dermatología, Hospital Infantil Universitario Niño Jesús, Madrid, España.
Background And Objectives: The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion.
Patients And Methods: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital.
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