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Pachydermoperiostosis 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 PDFTargeting Metabolomics in Primary Hypertrophic Osteoarthropathy: Uncovering Novel Insights into Disease Pathogenesis.
J Clin Endocrinol Metab
November 2024
Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China.
Context: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder characterized by skeletal and skin abnormalities. Genetic defects in prostaglandin E2 (PGE2) metabolism are known to cause PHO. However, the global impact and clinical significance of eicosanoids and oxylipins beyond PGE2 remain to be elucidated.
View Article and Find Full Text PDFAn Unusual Case of Gastric Multiple Lesions With Skin and Joint Abnormalities.
Gastroenterology
November 2024
Department of Gastroenterology and Hepatology, West China Hospital, Sichuan University, Chengdu, China; Sichuan University-University of Oxford Huaxi Joint Centre for Gastrointestinal Cancer, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China. Electronic address:
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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