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Pediatric Mycosis Fungoides Mimicking Benign Dermatoses: A Report of a Rare Case.
Am J Case Rep
January 2025
Department of Pathology, Hospital Selayang, Batu Caves, Selangor, Malaysia.
BACKGROUND Primary cutaneous lymphomas (PCL) are a multifaceted spectrum of cutaneous T cell lymphoma (CTCL) and cutaneous B cell lymphomas (CBCL). Mycosis fungoides (MF) is a rare subset of CTCL that primarily affects adults, and its occurrence in children is exceedingly rare. Most pediatric MF manifests as hypopigmented patches resembling other benign dermatoses, causing diagnostic challenges.
View Article and Find Full Text PDFHypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum.
Int J Dermatol
January 2025
Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
The Therapeutic Potential of Oral Everolimus for Facial Angiofibromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy.
Diseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
View Article and Find Full Text PDFFrom Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.
Am J Med Genet A
November 2024
Pediatric Genetics, Ege University, Izmir, Turkey.
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) is a rare neuroectodermal syndrome caused by somatic mosaic mutations in the RHOA gene. It presents with linear skin hypopigmentation, facial and limb asymmetry, dental and acral anomalies, and leukoencephalopathy, generally preserving intellectual and neurological functions. We report two cases of EDFAOB.
View Article and Find Full Text PDFBilateral Macular Dysplasia in Coffin-Siris Syndrome.
Retin Cases Brief Rep
November 2024
Associated Retinal Consultants. Royal Oak, Michigan, USA.
Article Synopsis
- The case report details a 7-year-old boy with Coffin-Siris syndrome (CSS) who exhibits bilateral macular dysplasia without accompanying pigmentary retinopathy.
- His medical history includes various developmental and anatomical issues, and genetic testing confirmed a variant linked to CSS and an uncertain variant in the CNGB1 gene.
- The boy's eye examinations over a decade showed stable vision and persistent macular dysplasia, suggesting that his ocular symptoms might broaden the understanding of CSS-related conditions.
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