We describe a 25-year-old male with juvenile onset diabetes mellitus who developed severe pseudomembranous enterocolitis with intractable diarrhea for which he was maintained on total parenteral nutrition. Subsequently, he developed clinical signs and typical radiological manifestations of hypertrophic osteoarthropathy (HOA) associated with hemolytic anemia, proteinuria and immunoglobulin deficiency. Immune complexes were not detected in either sera and synovial fluid.
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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 PDFJCEM 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 PDFJ 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 PDFGastroenterology
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:
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