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Pseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome.
BMJ Case Rep
January 2025
Diabetes and Endocrinology, Children's Health Ireland at Crumlin, Dublin 12, Ireland.
A boy in mid-childhood presented with right-sided gynaecomastia, which was excised. He represented and, on review by endocrinology, Tanner staging showed stage 2 left-sided glandular breast tissue and some features of virilisation. His testicular volumes remained prepubertal (3 mL).
View Article and Find Full Text PDFClinical Features and Risks of Congenital Melanocytic Naevi: A Retrospective Analysis of Patients at the Queensland Children's Hospital.
Australas J Dermatol
January 2025
QCIF Bioinformatics, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Background/objectives: Congenital melanocytic naevi (CMN) are a risk factor for melanoma. Melanoma risk is dependent on the congenital phenotype. Our primary aims were to assess the clinical characteristics of CMN that indicate a high risk of neurocutaneous melanosis (NCM) and melanoma in an Australian paediatric population group; to identify patient characteristics and clinical features of CMN that trigger further investigations; and to determine the rate of malignancy and other complications for CMN.
View Article and Find Full Text PDFCase 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
January 2025
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.
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