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Case Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome.
Front Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
View Article and Find Full Text PDFCase Report: Concurrent pathogenic variants in the gene as a cause of sporadic partial lipodystrophy.
Front Genet
November 2024
Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Introduction: Inherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked pathogenic variants in the gene.
Methods: A female adult with partial lipodystrophy and her parents were evaluated for gene variants across the exome under different mendelian inheritance models (autosomal dominant, recessive, compound heterozygous, and X-linked) to find pathogenic variants.
Hemophagocytic lymphohistiocytosis caused by multiple infections during primary chemotherapy for pediatric acute lymphoblastic leukemia: a case report.
Front Immunol
November 2024
Department of Neonatology, Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, China.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder that occurs as a consequence of immune dysregulation. HLH can be primary (familial or non-familial) or secondary to infection, autoimmune disease or malignancy. Malignancy-associated HLH is often accompanied by hematologic and lymphoid neoplasms.
View Article and Find Full Text PDFCronkhite-Canada syndrome: A case report and literature review.
Medicine (Baltimore)
October 2024
Department of Gastroenterology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
Article Synopsis
- Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary condition characterized by gastrointestinal polyps, ectodermal changes, and symptoms such as hair loss, skin pigmentation, and malnutrition, predominantly affecting middle-aged and older males.* -
- The case study involves a 72-year-old female who experienced severe gastrointestinal issues, which led to the discovery of multiple polyps through endoscopic examinations after her treatment for intestinal obstruction.* -
- Following a comprehensive treatment plan that included medications and nutritional support, the patient showed significant improvement in symptoms, with reduced diarrhea and a notable decrease in the number and size of polyps upon follow-up examination.*
Nonfamilial cherubism in a 6-month-old infant: a case report.
BMC Pediatr
June 2024
Department of Pediatrics, Nemazee Teaching Hospital, Shiraz University of Medical Sciences, Shiraz, Zand St, Shiraz, Iran.
Background: Cherubism is known as a very rare autosomal dominant familial disorder of childhood caused by a mutation in the SH3BP2 gene on 4p16.3. It has not yet been observed at birth and is usually diagnosed in children aged 2-7.
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