We report the case of a 5-year-old girl who presented with 2 blue-red atrophic plaques on the left leg as well as subcutaneous nodules that were present since infancy. Although the clinical criteria of neurofibromatosis (NF) were absent, microscopic examination revealed features of a blue-red neurofibroma.
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Clin J Gastroenterol
January 2025
Department of Surgery, Shizuoka Medical Center NHO, 762-1, Nagasawa, Shimizu, Sunto, Shizuoka, 411-8611, Japan.
Mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) of the colon is rare with a poor prognosis. Since the first description of a mixed neoplasm 100 years ago, the nomenclature has evolved, most recently with the 2022 World Health Organization (WHO) classification system. We describe our experience of a case of locoregionally advanced MiNEN of the descending colon treated with curative laparoscopic resection and adjuvant chemotherapy.
View Article and Find Full Text PDFJ Natl Cancer Inst
January 2025
Surveillance Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD, USA.
Childhood cancers are a heterogeneous group of rare diseases, accounting for less than 2% of all cancers diagnosed worldwide. Most countries, therefore, do not have enough cases to provide robust information on epidemiology, treatment, and late effects, especially for rarer types of cancer. Thus, only through a concerted effort to share data internationally will we be able to answer research questions that could not otherwise be answered.
View Article and Find Full Text PDFMol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFJ Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFJ Pediatr Adolesc Gynecol
January 2025
Department of Obstetrics and Gynecology, University of Health Sciences, Bagcilar Training and Research Hospital, Istanbul, Turkey. Electronic address:
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