Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by multiple lentigines on otherwise normal skin affecting one side of the body. We report on a girl with an extensive form of bilateral lentiginosis with systematized segmental distribution and a unilateral congenital cataract. The arrangement of the lentigines is reminiscent of a checkerboard pattern. The benign condition is discussed in the context of systemic diseases with lentigines.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A novel frameshift variant in the gene is associated with recessive oculodentodigital dysplasia.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Hospital das Clínicas - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
Background: Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 () gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frameshift variant in .
View Article and Find Full Text PDFExploring the safety and feasibility of intracameral Aprokam® (cefuroxime sodium) in pediatric cataract surgery.
Int Ophthalmol
January 2025
Cleveland Clinic Abu Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates.
Purpose: To describe the safety and assess the feasibility of using intracameral cefuroxime sodium (Aprokam®) during congenital cataract surgery as a preventive measure for endophthalmitis.
Design: Monocentric, prospective, observational pilot study.
Setting: San Giuseppe Hospital, University of Milan, Milan, Italy.
Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFSuccessful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!