1,044 results match your criteria: "Pachydermoperiostosis"
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.
Pachydermoperiostosis: Cosmetic implications in a multi-system genetic condition.
Clin Exp Dermatol
August 2024
Department of Dermatology, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK.
Article Synopsis
- - A 17-year-old patient was diagnosed with pachydermoperiostosis, a rare genetic condition that causes painful joint swelling and distinct facial features, after being referred to rheumatology.
- - Genetic testing revealed a specific variant (SLCO2A1) linked to more severe symptoms, including significant functional impairment and psychosocial issues due to the patient's appearance.
- - The condition is multi-systemic and can lead to serious complications like myelofibrosis and gastric issues, emphasizing the need for early detection and further research in medical management options.
Pachydermoperiostosis Presenting With End-Stage Kidney Disease.
Cureus
June 2024
Nephrology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Article Synopsis
- - Pachydermoperiostosis, or Touraine-Solente-Golé syndrome, is a rare hereditary disorder characterized by skin thickening, bone abnormalities, and digital clubbing.
- - A case study described an individual with this condition who developed end-stage kidney disease likely due to chronic use of analgesics and alternative medications.
- - While there is no cure for pachydermoperiostosis itself, treatments like hemodialysis and medication (such as a COX-2 inhibitor) can help manage its complications.
Inflammatory 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.
Pseudoacromegaly-A challenging entity in the endocrine clinic: A systematic review.
Clin Endocrinol (Oxf)
June 2024
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Article Synopsis
- Pseudoacromegaly refers to conditions that show symptoms similar to acromegaly or gigantism but do not involve excess growth hormone (GH) or insulin-like growth factor-1 (IGF-1).
- A systematic review of 76 cases revealed that most patients were males, with common conditions being pachydermoperiostosis and insulin-mediated pseudoacromegaly, and symptoms like acromegaloid facies and acral enlargement.
- The study emphasizes the importance of thorough GH and IGF-1 testing by endocrinologists to accurately exclude acromegaly, as misdiagnosis can lead to unnecessary interventions, especially regarding pituitary findings.
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.*
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.
Pierre-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 PDFPachydermoperiostosis 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.
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.
Am J Med Genet A
March 2024
Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Article Synopsis
- Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are genetic conditions linked to mutations in the SLCO2A1 gene that can occur together or separately.
- The study presents two Mexican cases of PHOAR2 with concurrent CEAS and reviews 232 reported cases to examine the correlation between genetic variants and clinical features.
- Key findings include specific genetic variants associated with each condition, notably a significant link between certain SLCO2A1 mutations and CEAS, with a call for further research to understand the underlying disease mechanisms and improve treatment options.
Identification of three novel mutations in in Asian-Indians with Pachydermoperiostosis.
Indian J Med Res
September 2023
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad 500 082, Telangana, India.
Pachydermoperiostosis: a case report of initial improvement with etoricoxib.
Ann Med Surg (Lond)
October 2023
Departments of Internal Medicine and.
Introduction And Importance: Pachydermoperiostosis (PDP) is a syndrome characterised by the triad of pachydermia, digital clubbing and periostosis of long bones and its scarce incidence and similarity in clinical features with acromegaly makes the diagnosis challenging. The elevated PGE2 levels have been hypothesised as one of its mechanisms and therapies have been targeted to inhibit this prostaglandin.
Case Presentation: A 25-year-old man with no comorbidities presented to OPD with a 10-year history of bilateral pain and swelling of the hands and feets associated with hyperhidrosis, grade IV clubbing and marked skin thickening on his forehead.
A case of secondary hypertrophic osteoarthropathy from medieval Tuscany (central Italy, 10th-12th centuries CE).
Int J Paleopathol
December 2023
Division of Paleopathology, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Italy.
Article Synopsis
- The study evaluates a male skeleton from medieval rural Italy showing signs of secondary hypertrophic osteoarthropathy (HOA) to understand the disease's impact on health in that region.
- Extensive bone formation was seen particularly in the lower limbs, indicating severe effects of HOA as diagnosed through both macroscopic and radiological analyses.
- The study highlights the need for further research to uncover the primary cause of HOA, as molecular analysis failed to identify any underlying tuberculosis, and suggests revisiting existing osteoarchaeological data for additional cases.
Primary hypertrophic osteoarthropathy: genetics, clinical features and management.
Front Endocrinol (Lausanne)
September 2023
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Article Synopsis
- - Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder marked by symptoms like clubbing fingers, thick skin (pachydermia), and bone abnormalities (periostosis) caused by mutations affecting PGE2 degradation.
- - PHO can be categorized into three subtypes based on genetic causes and inheritance, which influence the age of onset, gender distribution, and clinical symptoms.
- - Current treatment involves COX-2 inhibitors to manage symptoms, but side effects limit their use; the review also explores potential future treatment options and provides insights from extensive clinical research.
Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report.
Pan Afr Med J
September 2023
Hamilton Eye Institute, University of Tennessee, Memphis, Tennesse, United States of America.
Article Synopsis
- Pachydermoperiostosis, also known as primary hypertrophic osteoarthropathy or Touraine-Solente-Gole syndrome, is a rare genetic disorder characterized by symptoms like digital clubbing, thickened skin, and abnormal bone growth.
- The condition can lead to complications such as severe blepharoptosis (drooping of the upper eyelids), which can affect vision.
- This case study from Jamaica reports surgical intervention for a patient with pachydermoperiostosis to correct severe ptosis, resulting in improved vision and quality of life.