2,862 results match your criteria: "Hypertrophic Osteoarthropathy"
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:
Case report: hypertrophic osteoarthropathy improves with immune checkpoint inhibitor therapy.
J Chemother
October 2024
University of Alberta, Edmonton, Canada.
Article Synopsis
- A 66-year-old male with recurrent stage IIIA non-small cell lung cancer (NSCLC) developed hypertrophic osteoarthropathy (HOA) before starting immunotherapy.
- After receiving the immunotherapy drug durvalumab, the patient experienced significant relief from hand pain and complete resolution of his symptoms after five treatments.
- This case is notable because it suggests durvalumab could help manage HOA in NSCLC patients, highlighting a need for additional research into how immune-checkpoint inhibitors interact with HOA and other related conditions.
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.
[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.
Digital clubbing without hypoxia for lysinuric protein intolerance.
Eur J Med Genet
October 2024
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Digital clubbing is characterized by bulbous enlargement of the terminal segments of the fingers. Hypotheses including hypoxia have been proposed for the pathogenesis of digital clubbing, but the exact pathogenesis of digital clubbing is still uncertain. Lysinuric protein intolerance (LPI) is caused by pathogenic variants in SLC7A7 and is often associated with interstitial lung disease.
View Article and Find Full Text PDFInflammatory Granulomas, Accompanied by Mild Proliferation of Spinous Layer in Primary Hypertrophic Osteoarthropathy.
Indian J Pediatr
November 2024
Department of Pediatrics, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277, Jiefang Avenue, Wuhan City, 430022, Hubei Province, China.
A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.
Orphanet J Rare Dis
June 2024
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China.
Article Synopsis
- CEAS is caused by loss-of-function variants in the SLCO2A1 gene, which is inherited in an autosomal recessive manner, with about 30 such variants identified so far.
- Whole exome sequencing identified a novel, homozygous variant in SLCO2A1 that altered splicing and resulted in a truncated transcript in a patient with CEAS.
- The study improves insight into the pathophysiology of CEAS and PHO, along with aiding in genetic diagnosis and counseling.
Clinical Outcomes of Utilizing a "W"-shaped Incision in the Management of Forehead Skin Thickening Induced by Hypertrophic Osteoarthropathy.
Aesthetic Plast Surg
July 2024
Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 JieFang Avenue, Wuhan, Hubei Province, People's Republic of China.
Article Synopsis
- Hypertrophic osteoarthropathy (HOA) is a rare hereditary condition characterized by thickened forehead skin, but its exact cause is unknown.
- Surgical treatment, particularly the "W"-shaped skin flap technique, has been applied to improve the appearance of the forehead in patients with HOA.
- In a review of 5 male patients treated in one department, all surgeries were successful in reducing forehead deformities, although one patient experienced a postoperative infection, indicating that the technique is generally safe and effective.
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.
Orphanet J Rare Dis
May 2024
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Article Synopsis
- * The study analyzed data from 12 Chinese patients, revealing that over half were male and had additional symptoms like abdominal pain, diarrhea, and amenorrhea in females.
- * Researchers identified 11 new genetic variants of SLCO2A1 and noted significant pathological findings, but emphasize the need for further research with larger groups to better understand the disease mechanisms.
Lack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis.
J Dermatol Sci
May 2024
Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan. Electronic address:
Role of bisphosphonates in hypertrophic osteoarthropathy: a systematic review.
Endocrine
August 2024
Consultant Endocrinologist, Dr Jayaharan Memorial Hospital, Nagercoil, Tamilnadu, India.
Article Synopsis
- The study investigates the role of bisphosphonates (BP) in treating hypertrophic osteoarthropathy (HPOA) through a case and systematic literature review.
- A total of 45 patients with either primary or secondary HPOA were analyzed, revealing that 88.3% experienced pain improvement after BP treatment, especially within days for secondary HPOA.
- Despite the promising results, the study highlights the need for more randomized controlled trials, as the current data comes mostly from case reports and secondary outcomes were not consistently reported.
Ultrasound findings in secondary hypertrophic osteoarthropathy.
Joint Bone Spine
July 2024
Service de rhumatologie, CHU de Besançon, 25000 Besançon, France.
Comprehensive Treatment of a Rare Case of Complete Primary Pachydermoperiostosis with Large Facial Keloid Scars: A Case Report and Literature Review.
Case Rep Dermatol
March 2024
Department of Dermatology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, China.
Article Synopsis
- Pachydermoperiostosis (PDP) is a rare genetic disorder characterized by skin thickening, new bone growth, and sometimes keloid scar formation, which may involve an excess of fibroblasts and irregular connective tissue.* -
- A case study of a 25-year-old man with PDP included symptoms like facial skin folding, joint pain, and clubbing of fingers and toes, which led to treatments including skin dermabrasion and various injectable therapies to manage his keloid scars.* -
- Despite the unclear cause of PDP, most patients stabilize over time, and tailored treatment plans involving multiple therapies can effectively address the challenges posed by keloids and improve patient outcomes.*
Clubbing and hypoxia in an adolescent male.
Arch Dis Child
May 2024
University Hospital Southampton NHS Trust, Southampton, UK
Small cell conversion complicated with hypertrophic pulmonary osteoarthropathy after targeted therapy for advanced EGFR-mutated lung adenocarcinoma: A case report.
Indian J Pathol Microbiol
February 2024
Cancer Center, Union Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Article Synopsis
- The era of precision therapy has made treating patients with positive driver genes, especially EGFR mutations in non-small cell lung cancer (NSCLC), a critical area of global research, with EGFR mutations found in about 17% of cases.
- Targeted therapies for EGFR mutations are effective initially, but patients often develop resistance over time.
- A case study illustrates that a patient with advanced lung adenocarcinoma experienced a transformation to small cell lung cancer and developed hypertropic pulmonary osteoarthropathy (HPOA) after 6 months of treatment, suggesting that early detection of HPOA may indicate potential resistance and disease progression.
Pachydermoperiostosis with Chronic Venous Disease.
Port J Card Thorac Vasc Surg
February 2024
Department of Cardiovascular Surgery, Institute of Cardiology, Istanbul University-Cerrahpasa, İstanbul, Turkey.
Hypertrophic Osteoarthropathy: A Case of an Undifferentiated Polyarthritis.
Cureus
December 2023
Pulmonology Department, Centro Hospitalar Trás-os-Montes e Alto Douro, Vila Real, PRT.
Hypertrophic osteoarthropathy is a paraneoplastic syndrome and is considered an important secondary cause of rheumatic disease. It typically manifests as tibial and femoral bone pain, with arthralgia or synovitis of adjacent joints also being common findings. Usually, musculoskeletal symptoms accompany the course of the disease, disappearing with treatment of the neoplasm and recurring coincidentally with the tumor relapse.
View Article and Find Full Text PDFPierre-Marie Bamberger Syndrome Leading to the Diagnosis and Surgical Treatment of a Localized Lung Cancer.
Cureus
November 2023
Division of Thoracic Surgery, Valais Romand Hospital Center, Sion, CHE.
Hypertrophic osteoarthropathy (HOA), manifested with digital clubbing, tubular bone periostosis, and large joint synovial effusions, exists in two forms: primary, which is the rarest form, and secondary. The latter is frequently associated with lung diseases and, in some cases, with non-small cell lung cancer (NSCLC) and is thus expressed in the form of a paraneoplastic syndrome. We report the case of a male smoker who was presented with secondary hypertrophic osteoarthropathy and was subsequently diagnosed with primary adenocarcinoma of the lung.
View Article and Find Full Text PDFSMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Hered Cancer Clin Pract
December 2023
Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, Australia.
Background: Juvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime cancer risk by 9 - 50%. Around 40-60% of JPS cases are caused by disease-causing variants (DCV) in SMAD4 or BMPR1A genes, of which SMAD4 accounts for 20-30%.
Objectives: To characterise genotype-phenotype correlations between sites and types of variants within SMAD4 to JPS phenotypes, to inform diagnosis, screening, and management of JPS.
Pachydermoperiostosis combined with pyloric gland adenoma with foveolar-type adenoma.
United European Gastroenterol J
February 2024
Department of Gastroenterology, The First People's Hospital of Yunnan Province, Kunming, China.
Paraneoplastic Polyarthritis in a Patient with Synchronous Lung and Colorectal Malignancy.
Mediterr J Rheumatol
September 2023
Department of Internal Medicine and Rheumatology, Sf. Maria Clinical Hospital, Bucharest, Romania.