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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.
[Genetic analysis of a child with Primary hypertrophic osteoarthropathy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2024
Center for Gene Diagnosis/Department of Laboratory Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China.
Article Synopsis
- The study aims to investigate the genetic causes of Primary hypertrophic osteoarthropathy in a child admitted to a hospital in Wuhan, China, in July 2021.
- Researchers used whole exome sequencing on blood samples from the child and his parents, identifying compound heterozygous variants of the HPGD gene linked to the child’s condition.
- Their findings reveal specific deletions and splicing variants in the HPGD gene that likely contribute to the child's illness, also offering new insights for genetic counseling and prenatal diagnosis for the family.
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