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A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.
Am J Med Genet A
January 2025
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first step of prostaglandin E2 (PGE2) degradation. Selective COX-2 inhibitors have proved beneficial in adults, though it is unknown if early initiation of COX-2 inhibitors can alter the natural history of PHOAR1.
View Article and Find Full Text PDFPachydermoperiostosis Due to a Novel Splicing Site Mutation Masquerading as Acromegaly.
JCEM Case Rep
December 2024
College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia.
Hypertrophic osteoarthropathy (HOA: MIM 167100)) is classified into primary and secondary types. Primary HOA, also known as pachydermoperiostosis (PDP), is a rare genetic condition with distinct clinical features including digital clubbing, skin thickening, and periostosis. Secondary HOA often occurs as a paraneoplastic syndrome or is associated with systemic diseases.
View Article and Find Full Text PDFAn Automated Clubbed Fingers Detection System Based on YOLOv8 and U-Net: A Tool for Early Prediction of Lung and Cardiovascular Diseases.
Diagnostics (Basel)
October 2024
College of Medicine, National Chung Hsing University, Taichung 402202, Taiwan.
Article Synopsis
- - Lung and cardiovascular diseases are major causes of death, but early detection is difficult because symptoms are often subtle, with digital clubbing (enlarged fingertips) being an early warning sign.
- - The study presents an automated system that uses deep-learning models (YOLOv8 for detection and U-Net for segmentation) and an ESP32-CAM to analyze finger images in real-time, categorizing the severity of digital clubbing based on a custom algorithm.
- - The system showed impressive accuracy (98.34%) and fast image processing (0.15 seconds per image), making it a viable solution for early detection of diseases, applicable in both clinical settings and at home.
Hypertrophic Osteoarthropathy Mimicking Rheumatoid Arthritis.
Cureus
October 2024
College of Health Sciences, University of Leicester, Leicester, GBR.
Article Synopsis
- * A patient with HOA secondary to lung adenocarcinoma presented with symptoms resembling rheumatoid arthritis, highlighting the need for careful diagnosis since antibodies typically associated with rheumatoid arthritis can be elevated in other conditions too.
- * This case emphasizes the importance of considering HOA when diagnosing inflammatory arthritis in cancer patients, as proper identification and treatment of the underlying malignancy can significantly improve both rheumatologic and cancer-related outcomes.
[Nail Clubbing].
Rev Med Suisse
October 2024
Service de médecine interne et des soins intensifs, Hôpital de Nyon, Groupement hospitalier de l'Ouest lausannois, 1260 Nyon.
Article Synopsis
- A 78-year-old male with COPD (GOLD 3E) is hospitalized due to a COPD exacerbation and exhibits unusual finger and nail abnormalities, indicating nail clubbing.
- The hyponychial angle is measured at 195 degrees, and a positive Schamroth sign is present, suggesting a potential underlying issue.
- Further investigation reveals significant weight loss and a CT scan that identifies a peri-hilar mass, ultimately diagnosing small cell lung cancer through biopsy.
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