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| http://dx.doi.org/10.1016/j.jdcr.2024.01.011 | DOI Listing |
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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 PDFMelanosis of the bladder: Case study of a rare and obscure entity.
Int J Surg Case Rep
December 2024
Urology A Department, University Hospital IBN SINA, Morocco.
Introduction And Importance: Melanosis of the bladder is a rare condition defined by the development of melanin in the bladder's urothelium and/or macrophages in the lamina propria. This condition first became known in humans in 1986, with fewer than 30 cases described in the English medical literature to date.
Case Report: We present the rare case of bladder melanosis affecting an 85-year-old patient.
Oculodermal melanocytosis in Asian Indian patients: Prevalence, clinical presentation, and association with choroidal melanoma.
Indian J Ophthalmol
January 2025
The Operation Eyesight Universal Institute for Eye Cancer, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Objective: To study the prevalence, clinical presentation, treatment, and follow-up of ocular (dermal) melanocytosis (ODM) and its association with choroidal melanoma (CM) in Asian Indian patients.
Methods: This was a retrospective case series of patients with ODM conducted in a quaternary eye care center.
Results: Of the total 1.
Therapeutic Strategies in Neurocutaneous Melanocytosis.
Anticancer Res
December 2024
Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, U.S.A.
Article Synopsis
- * The condition is usually fatal if symptoms appear, with a high chance of the brain lesions becoming malignant, especially in those with larger skin nevi.
- * Current treatments focus on palliative care and aim to manage symptoms, as there is no cure, highlighting the need for ongoing research to develop effective therapies and address this critical medical gap.
Generation of the TSHSUi002-A induced pluripotent stem cell line from a patient with Peutz-Jeghers syndrome carring STK11 gene mutation.
Stem Cell Res
December 2024
Department of Gastroenterology, The Second Hospital of Shandong University, Jinan, China. Electronic address:
We report the derivation of an induced pluripotent stem cell (iPSC) line, designated TSHSUi002-A, from a patient with Peutz-Jeghers syndrome carrying a heterozygous c.909C>G mutation in the STK11 gene. The iPSCs were generated through the reprogramming of peripheral blood mononuclear cells using a non-integrating method involving episomal vectors expressing OCT4, SOX2, KLF4, BCL-XL, and c-MYC.
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