963 results match your criteria Pachydermoperiostosis

Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.

J Dermatol 2021 Jun 11. Epub 2021 Jun 11.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Pachydermoperiostosis (PDP) is a genetic disease characterized by digital clubbing, periostosis, and pachydermia caused by mutated HPGD or SLCO2A1. Plasma prostaglandin (PG)E levels are increased in these patients. However, other eicosanoids have not been quantitated. Read More

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Role of Prostaglandin E-major Urinary Metabolite Levels in Identifying the Phenotype of Pachydermoperiostosis.

J Invest Dermatol 2021 Jun 2. Epub 2021 Jun 2.

Department of Dermatology, Kyoto University School of Medicine, Kyoto, Japan; Singapore Immunology Network (SIgN) and Skin Research Institute of Singapore (SRIS), A*STAR, Singapore.

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A Case of Progressive Thickening and Furrowing of Facial Skin and Scalp with Scarring Alopecia.

Skin Appendage Disord 2021 Apr 11;7(3):237-242. Epub 2021 Mar 11.

Division of Dermatology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

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Multiple small intestinal ulcers with SLCO2A1 and PLA2G4A mutation in a Chinese patient.

Dig Liver Dis 2021 May 26. Epub 2021 May 26.

Department of Gastroenterology and Hepatology, Tianjin Medical University General Hospital, No. 154, Anshan Road, Heping District, Tianjin 300052, China. Electronic address:

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J Clin Res Pediatr Endocrinol 2021 May 24. Epub 2021 May 24.

Karadeniz Technical University Faculty of Medicine, Medical Geneticist, Specialist, Erzurum, Turkey.

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy is a rare genetic disorder characterized bypachyderma and periostosis.Acromegaly is a condition caused by excessive secretion of growth hormone leading to elevated insulin growth factor-1 levels, which is characterised by somatic overgrowth and physical disfigurement notably affecting hands and feet. We presented two cases referred with an initial diagnosis of acromegaly and were ultimately diagnosed as PDP. Read More

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A case of complete form of pachydermoperiostosis with SLCO2A1 mutations.

Cui Xu Yue Tao

Eur J Dermatol 2021 Apr;31(2):249-251

Dermatological Department, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.

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Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.

J Bone Miner Res 2021 Apr 14. Epub 2021 Apr 14.

Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as a recessive or irregular dominant trait and characterized by digital clubbing, pachydermia, and periostosis. Biallelic mutations in HPGD and SLCO2A1, disturbing prostaglandin E (PGE ) catabolism and leading to increased circulating PGE level, cause PHO autosomal recessive 1 (PHOAR1) and PHO autosomal recessive 2 (PHOAR2), respectively. However, no causative genes have been reported for PHO autosomal dominant (PHOAD). Read More

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Pachydermoperiostosis Presenting With Vision Loss Secondary to Severe Phlyctenular Keratoconjunctivitis.

Cornea 2021 Apr 1. Epub 2021 Apr 1.

Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, NY.

Purpose: To report a case of severe phlyctenular keratoconjunctivitis in a patient with pachydermoperiostosis (PDP).

Methods: A 29-year-old Hispanic man presented with a 1-year history of vision loss in the right eye and redness, photophobia, and pain in both eyes. Associated symptoms included enlargement of his hands and feet for 3 years, acne, and joint pain. Read More

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[A Case of Lung Adenocarcinoma with Pulmonary Hypertrophic Osteoarthropathy].

Gan To Kagaku Ryoho 2021 Feb;48(2):297-299

Dept. of Surgery, Kishiwada Tokushukai Hospital.

Background: Hypertrophic osteoarthropathy(HOA)is a syndrome that has three signs, the digital finger, periosteal neoplasia of the iliac bone, and arthritis. Among them, the secondary 1 associated with lung disease is called pulmonary hypertrophic osteoarthropathy(PHO). It is reported that many of the underlying diseases are associated with primary lung cancer, but in Japan, this is a rare condition with about 0. Read More

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February 2021

gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy.

J Orthop Translat 2021 May 28;28:10-11. Epub 2021 Jan 28.

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Fukuoka, Japan.

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Rare gastric manifestations in primary pachydermoperiostosis.

Rheumatology (Oxford) 2021 Feb 8. Epub 2021 Feb 8.

Department of Rheumatology and Immunology, Ruijin Hospital, Shanghai JiaoTong University School of Medicine, No. 197 Ruijin Second Road, Shanghai, China.

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February 2021

Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation.

Stem Cell Res 2021 Apr 1;52:102217. Epub 2021 Feb 1.

Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address:

Primary hypertrophic osteoarthropathy, autosomal recessive type 1 (PHOAR1, MIM259100) is caused by mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD, MIM601688) on chromosome 4q34. An induced pluripotent stem cells (iPSCs) line was generated in our lab from peripheral blood mononuclear cells (PBMCs) of a 2-year-7-month-old girl with PHOAR1 carrying a homozygous mutation of c.310_311del in HPGD. Read More

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Frontal lifting using a tissue expander in pachydermoperiostosis: A case report.

Clin Case Rep 2021 Jan 18;9(1):46-49. Epub 2020 Dec 18.

Instituto de Medicina Integral Prof. Fernando Figueira Recife Brazil.

Pachydermoperiostosis, a rare condition, is characterized by pachydermia, finger clubbing, and periostosis. We present an unusual treatment for frontal rhytids, for which we used a tissue expander that contributed to thinning of the skin and the depth of the rhytids prior to frontal lifting. The results were maintained after one year. Read More

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January 2021

Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action.

Pharmacol Ther 2021 Jul 16;223:107803. Epub 2021 Jan 16.

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Fukuoka 812-8582, Japan.

Solute carrier organic anion transporter family member 2A1 (SLCO2A1, also known as PGT, OATP2A1, PHOAR2, or SLC21A2) is a plasma membrane transporter consisting of 12 transmembrane domains. It is ubiquitously expressed in tissues, and mediates the membrane transport of prostaglandins (PGs, mainly PGE, PGF, PGD) and thromboxanes (e.g. Read More

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A 2-Year-Old Boy With Hypoxemia, Pulmonary Hypertension, and Digital Clubbing.

Chest 2021 01;159(1):e45-e48

Department of Pediatric Pulmonology, Ankara University School of Medicine, Ankara, Turkey.

Case Presentation: A 2-year-old boy was referred to the Ankara University School of Medicine Children's Hospital with a history of recurrent respiratory distress and cyanosis since birth. His medical history was significant for premature birth at 31 weeks via cesarean section, as an infant of a diabetic mother. There was no parental consanguinity. Read More

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January 2021

[Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene].

Zhonghua Nei Ke Za Zhi 2021 Jan;60(1):45-50

Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1 gene (CEAS). Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study. The clinical manifestations, laboratory test, radiological and endoscopic findings, gene detections, treatments and prognosis of these patients were reviewed and analyzed. Read More

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January 2021

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy.

Int J Endocrinol 2020 3;2020:6698878. Epub 2020 Dec 3.

Department of Endocrinology and Metabolism, Shanghai General Hospital, Shanghai Jiao Tong University, 100 Haining Road, Shanghai 200080, China.

Purpose: Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia. The underlying cause for the pathogenesis of this disease is a defect in prostaglandin E2 (PGE2) degradation, caused by mutations in HPGD or SLCO2A1. In this study, we describe the clinical characteristics, SLCO2A1 mutations, and bone metabolic markers of a PHO pedigree from a Chinese consanguineous twin family. Read More

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December 2020

Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis.

Intern Med 2020 15;59(24):3147-3154. Epub 2020 Dec 15.

Department of General Internal Medicine, Saitama Medical University, Japan.

A 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Read More

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Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of .

Mod Rheumatol Case Rep 2021 Jan 18:1-7. Epub 2021 Jan 18.

Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan.

Male, 41 years old (yo) had been complaining of severe arthralgia. Past History indicated obstruction of intestinal tract at 12 yo and gastric ulcer at 13 yo. He had been suffered from polyarthralgia especially at PIP and MP joints of both hands from 38 yo. Read More

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January 2021

Primary pulmonary lymphoepithelioma-like carcinoma accompanied by hypertrophic pulmonary osteoarthropathy in a non-epidemic region: a case report and literature review.

J Int Med Res 2020 Nov;48(11):300060520965816

Department of Respiratory and Critical Care Medicine, Ningbo First Hospital, Ningbo, China.

Pulmonary lymphatic epithelioma-like carcinoma (LELC) is a rare and unique subtype, accounting for 0.9% of all lung cancers. To date, just over 200 cases have been reported worldwide. Read More

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November 2020

Ankle arthritis - an important signpost in rheumatologic practice.

Rheumatology (Oxford) 2021 01;60(1):23-33

Department of Rheumatology, Frimley Health NHS Foundation Trust, Frimley, UK.

Ankle arthritis is a useful clinical signpost to differential diagnosis in rheumatic disease. Biomechanical features and differences in cartilage physiology compared with the knee may confer protection of the ankle joint from factors predisposing to certain arthritides. The prevalence of ankle OA is low, and usually secondary to trauma. Read More

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January 2021

Hypertrophic pulmonary osteoarthropathy with esophageal sarcomatoid carcinoma: a case report.

Ann Palliat Med 2021 May 16;10(5):5862-5869. Epub 2020 Sep 16.

Department of Radiation Oncology, Department of VIP Medical Services, National Carcinoma Center/National Clinical Research Center for Carcinoma/Carcinoma Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Hypertrophic pulmonary osteoarthropathy (HPOA), mainly manifested clubbing, is rare in patients with esophageal sarcomatoid carcinoma. We herein describe a 48-year-old Chinese man whose advanced sarcomatoid carcinoma was diagnosed while examining his symptoms of HPOA. The patient had no opportunity of surgery after surgical evaluation. Read More

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[Primary hypertrophic osteoarthropathy with renal hypokalemia: a case report].

Zhonghua Nei Ke Za Zhi 2020 Sep;59(9):720-723

Department of Endocrinology, Fuyang People's Hospital of Anhui Province, Fuyang, Anhui 236003, China.

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September 2020

Hypertrophic Osteoarthropathy Presenting as Rheumatoid Arthritis Mimicker: A Case Report.

Cureus 2020 Jul 19;12(7):e9271. Epub 2020 Jul 19.

Rheumatology, Pamukkale University, Denizli, TUR.

Paraneoplastic rheumatologic syndromes are defined as clinical conditions that mimic primary rheumatic disease in the course of cancer; they generally improve with the effective treatment of underlying malignancy. Hypertrophic osteoarthropathy (HOA) is one of the paraneoplastic syndromes, and it is characterized by the combined presence of periostosis, digital clubbing, and swelling of soft tissues, skin, and joints in the distal extremities. HOA is commonly associated with intrathoracic malignancies (primary lung tumors or metastases). Read More

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Pachydermoperiostosis: Classic Presentation of a Rare Disease.

Mediterr J Rheumatol 2020 Jun 30;31(2):214-215. Epub 2020 Jun 30.

Department of Clinical Immunology & Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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Incomplete primary hypertrophic osteoarthropathy.

BMJ Case Rep 2020 May 13;13(5). Epub 2020 May 13.

Department of Orthopaedics, University College of Medical Sciences, New Delhi, Delhi, India.

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More Than Knee Pain: A Case of Hypertrophic Osteoarthropathy Secondary to Lung Cancer.

J Emerg Med 2020 Nov 10;59(5):e179-e181. Epub 2020 May 10.

Saint Louis University School of Medicine, St Louis, Missouri; Division of Emergency Medicine, Saint Louis University Hospital, St Louis, Missouri.

Background: Hypertrophic osteoarthropathy (HOA) is a musculoskeletal pathology that often occurs as a paraneoplastic syndrome. 90% of HOA cases occur secondary to malignancy. 60 to 80% of which are lung cancers. Read More

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November 2020

Hypertrophic osteoarthropathy.

Best Pract Res Clin Rheumatol 2020 06 11;34(3):101507. Epub 2020 Apr 11.

Chief Rheumatology Department. National Institute of Cardiology, Juan Badiano 1, 14080, Mexico City, Mexico. Electronic address:

Hypertrophic osteoarthropathy (HOA) is an orphan syndrome characterized by abnormal proliferation of the skin and osseous tissues at the distal parts of the extremities. The main clinical features are: a peculiar bulbous deformity of the tips of the digits conventionally described as "clubbing," periosteal proliferation of the tubular bones, and synovial effusions. In most instances, HOA develops a reaction to a severe internal illness, such as lung cancer, cyanotic heart disease, or liver cirrhosis. Read More

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Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.

Clin Dysmorphol 2020 Jul;29(3):123-126

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal.

15-Hydroxyprostaglandin dehydrogenase is NAD-dependent catalytic enzyme involved in prostaglandin biosynthesis pathway encoded by HPGD. The pathogenic variations in HPGD cause primary hypertrophic osteoarthropathy (PHO). The objective of the present study is to identify the genetic basis in patients with digital clubbing due to PHO. Read More

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