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State of knowledge of the relationship between celiac disease and oral pathology: A scoping review.
Med Oral Patol Oral Cir Bucal
January 2025
Oral Medicine, Department of Stomatology School of Dentistry, University of Granada Granada, Paseo de Cartuja s/n, 18071 Granada, Spain
Background: Celiac disease (CD) is a systemic disorder characterized by an enteropathy of highly variable clinical expression, in which the relationship with oral pathology has not yet been fully elucidated. We aimed to update the current knowledge on oral manifestations in CD, to identify evidence gaps and to point out future research lines.
Material And Methods: PRISMA-ScR guidelines were followed.
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
JBMR Plus
February 2025
Radiology and Imaging Sciences, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States.
Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct facial appearance that prompted a cephalometric analysis demonstrating a pattern of mandibular retrognathia.
View Article and Find Full Text PDFEczema Herpeticum: A Fatal Rash That Mimics Many.
S D Med
September 2024
Avera Medical Group Infectious Disease Specialists, Sioux Falls, South Dakota.
Eczema herpeticum (EH) is a potentially life-threatening condition, especially in the pediatric population, that occurs among patients with atopic dermatitis (AD). AD is a chronic inflammatory skin disorder with a complex pathophysiology that predisposes patients to EH. Herpes simplex virus (HSV) 1 is implicated in 90 % of EH cases and often initially presents with gingivostomatitis.
View Article and Find Full Text PDFEruptive pseudoangiomatosis (EP) is a rare cutaneous condition that usually resolves spontaneously within a few days and is more frequently seen in the pediatric age group. It is characterized by the sudden onset of asymptomatic small erythematous hemangioma-like papules encircled by a pale halo. The precise pathogenesis is unknown; however, multiple environmental triggers have been reported.
View Article and Find Full Text PDFMissense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis and other skeletal features.
HGG Adv
January 2025
Department of Surgery, Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
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