A characteristic type of retinal microvascular abnormalities in a patient with neurofibromatosis type 1
This study aims to describe a typical retinal microvascular abnormality in patients with neurofibromatosis type 1 (NF-1).
Neurofibromatosis
Solitary juvenile xanthogranuloma of the hypopharynx. Clinico-pathologic study in a child with ?-Thalassemia Major and Cutaneous Mastocytosis
Juvenile Xanthogranuloma (JXG), the most common pediatric non-Langerhans cell histiocytosis, may rarely occur in association with Neurofibromatosis (types 1 and 2), Juvenile Myelomonocytic Leukemia and Cutaneous Mastocytosis (CM) and, morphologically, mimics Erdheim-Chester Disease tissue lesions and ALK-positive histiocytosis. We describe a 4-year-old girl with Beta-Thalassemia Major who developed an hypopharyngeal BRAFV600E- and ALK-negative JXG and CM. JXG has been rarely reported in the aerodigestive tract and in association with CM.