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    848 results match your criteria Pachydermoperiostosis

    1 OF 17

    Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.
    Bone 2017 Sep 26. Epub 2017 Sep 26.
    Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China. Electronic address:
    Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis, and pachydermia. Based on two causative genes, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1), PHO is categorized into two subtypes: hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1) and hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2). In this study, we summarized the clinical manifestations and analyzed SLCO2A1 gene in 23 PHOAR2 patients in our center. Read More

    Pachydermoperiostosis: The value of molecular diagnosis.
    Ann Dermatol Venereol 2017 Sep 12. Epub 2017 Sep 12.
    Department of Dermatology, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75475 Paris cedex 10, France; MAGEC, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75475 Paris cedex 10, France. Electronic address:
    Background: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified.

    Patients And Methods: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. Read More

    Secondary hypertrophic osteoarthropathy caused by non-pleural or pulmonary tumors.
    Medicine (Baltimore) 2017 Sep;96(36):e7985
    aDepartment of Diagnostic and Interventional Radiology, University Hospital Leipzig, Leipzig bDepartment of Diagnostic Radiology, Martin-Luther University Halle (Saale), Halle (Saale), Germany.
    Hypertrophic osteoarthropathy (HOA) is a rare paraneoplastic syndrome characterized by digital clubbing, periosteal reaction, polyarthralgia, arthritis, and synovitis. Herein, we report a case series of patients with secondary HOA caused by non-pleural or pulmonary tumors.The radiologic databases of 2 tertiary university hospitals were retrospectively screened for secondary HOA patients. Read More

    Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.
    Sci Rep 2017 Aug 29;7(1):9686. Epub 2017 Aug 29.
    Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.
    Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized with digital clubbing, pachydermia and periostosis. Variants in either HPGD or SLCO2A1 that interrupt the prostaglandin E2 (PGE2) pathway have been shown to be involved in PDP. Here, in addition to six confirmed variants in HPGD or SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from seven Chinese Han families. Read More

    Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene.
    Eur J Med Genet 2017 Aug 8;60(8):433-436. Epub 2017 Jun 8.
    Department of Endocrinology, The First Central Hospital(BDCH), Baoding 071000, China. Electronic address:
    We report on a rare case of pachydermoperiostosis (PDP) in a 25-year-old male who was admitted to our hospital because of enlargement of fingers and toes. Through examination, we found some typical features on the patient including finger clubbing, periostosis, pachydermia, and cutis verticis gyrata (CVG). But laboratory tests were almost within normal ranges, which ruled out rheumatic arthritis, osteopulmonary arthropathy, thyroid acropathy, and acromegaly. Read More

    Pachydermoperiostosis: a rare mimicker of acromegaly.
    Endocrinol Diabetes Metab Case Rep 2017 16;2017. Epub 2017 May 16.
    Endocrinology Unit, Department of Medicine, Putrajaya Hospital, PutrajayaMalaysia.
    Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. Read More

    Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly.
    Endocrinol Diabetes Metab Case Rep 2017 19;2017. Epub 2017 Apr 19.
    Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, LiègeBelgium.
    Summary: A 20-year-old man with an 8-year history of progressive enlargement of his hands and feet, coarsening facial features, painful joints and thickened, oily skin was referred for investigation of acromegaly. On examination, the subject was of normal height and weight. He had markedly increased skin thickness around the forehead, eyelids and scalp with redundant skin folds. Read More

    Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.
    J Bone Miner Res 2017 Aug 2;32(8):1659-1666. Epub 2017 Jun 2.
    Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
    Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in the prostaglandin metabolism pathway; disturbed prostaglandin E2 (PGE2 ) catabolism resulting in increased PGE2 level is suggested in the pathogenesis. Forty-three Han Chinese patients with PHO were studied and 41 of them were treated. Mutations in the HPGD gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1; OMIM 259100), were identified in seven patients, and mutations in the SLCO2A1 gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2; OMIM 614441), were identified in 36 patients. Read More

    Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.
    Mol Med Rep 2017 May 24;15(5):2977-2982. Epub 2017 Mar 24.
    Department of Respiratory Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
    Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrier organic anion transporter family, member 2A1 (SLCO2A1). However, the pathogenesis and the functions of the underlying genes remain to be fully elucidated. Read More

    [Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].
    Zhonghua Nei Ke Za Zhi 2017 Mar;56(3):194-198
    Department of Endocrinology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China.
    Objective: To analyze the clinical and genetic features of primary hypertrophic osteoarthropathy (PHO). Methods: The clinical data of one Chinese pedigree of PHO, namely pachydermoperiostosis (PDP) were collected.Blood samples were drawn from the propositus and other family members. Read More

    Primary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism?
    Case Rep Rheumatol 2017 2;2017:2583762. Epub 2017 Jan 2.
    Internal Medicine Department, Hurley Medical Center, Flint, MI, USA.
    Background. Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by abnormal proliferation of the skin and bony structures at the distal extremities resulting in digital clubbing, periosteal bony reaction, and joint effusion. It can be primary (idiopathic) without any clear identifiable etiology as well as secondary to variety of systemic diseases most notably lung pathology. Read More

    A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids.
    Indian J Ophthalmol 2016 Dec;64(12):938-940
    Department of Orbit Oculoplasty Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.
    Pachydermoperiostosis (PDP) is a multisystem disorder of mesenchymal origin. It is a form of hypertrophic osteoarthropathy. The typical clinical features include pachydermia, cutis verticus gyrata, digital clubbing, and periostosis. Read More

    Hypertrophic Osteoarthropathy: Clinical and Imaging Features.
    Radiographics 2017 Jan-Feb;37(1):157-195. Epub 2016 Dec 9.
    From the Department of Radiology, Keck School of Medicine, University of Southern California, 1500 San Pablo St, 2nd Floor Imaging, Los Angeles, CA 90033 (F.Y.Y., D.B.P., A.J.S., E.A.W., A.T., G.R.M.); Department of Radiology, Southern California University of Health Sciences, Whittier, Calif (M.R.S.); and Department of Radiology, Greater Los Angeles Veterans Affairs Medical Center, Los Angeles, Calif (S.M.).
    Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by abnormal proliferation of skin and periosteal tissues involving the extremities and characterized by three clinical features: digital clubbing (also termed Hippocratic fingers), periostosis of tubular bones, and synovial effusions. HOA can be a primary entity, known as pachydermoperiostosis, or can be secondary to extraskeletal conditions, with different prognoses and management implications for each. There is a high association between secondary HOA and malignancy, especially non-small cell lung cancer. Read More

    Tarsal Glandular Hyperplasia in Pachydermoperiostosis and Implications for Ptosis Correction.
    Ophthal Plast Reconstr Surg 2017 Jul/Aug;33(4):e92-e94
    *Division of Oculoplastic and Orbit, Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery; and †Department of Pathology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
    Pachydermoperiostosis is a rare genetic disease that causes major bone and skin changes. Severe ptosis is a prominent finding in this peculiar condition. We report here 2 patients with typical features of pachydermoperiostosis. Read More

    Pachydermoperiostosis.
    J Assoc Physicians India 2016 Mar;64(3):88-89
    Associate Professor, Mahatma Gandhi University of Medical Sciences and Technology, Jaipur, Rajasthan.
    A case of Pachydermoperiostosis (PDP) presented to us in rheumatology clinic with complaints of enlargement and broadening of bilateral hands and feet, grade IV digital clubbing, coarsening of facial features, excessive sweating of the palms, soles during summers. Read More

    Laxative Related Primary Hyperphosphatemic Tumoral Calcinosis Identified by Bone Scintigraphy.
    World J Nucl Med 2016 Sep;15(3):200-2
    Department of Nuclear Medicine, Fremantle Hospital, WA 6160, Australia.
    We describe a case of a 40-year-old female patient presenting with tumor calcinosis where hypertrophic pulmonary osteoarthropathy (HPOA) was suspected given her extensive history of malignancy. Plain X-rays did not show reveal the typical periarticular calcification but did show appearances consistent with HPOA. Bone scintigraphy with (99m)Tc-methylene diphosphonate (MDP) is a sensitive investigation in the detection of hypertrophic osteoarthopathy but did not show findings characteristics of HPOA like bilateral symmetrical increased uptake of the radiopharmaceutical along the cortical margins of the long bones. Read More

    Poorly Differentiated Neuroendocrine Tumor of the Esophagus with Hypertrophic Osteoarthropathy and Brain Metastasis: A Success Story.
    Cureus 2016 Jun 19;8(6):e646. Epub 2016 Jun 19.
    Medicine, Tufts Medical Center.
    Neuroendocrine carcinomas (NECs) of the esophagus are very rare. The majority of the patients with NECs present with metastasis. Paraneoplastic syndromes, such as syndrome of inappropriate secretion of anti-diuretic hormone and watery diarrhea-hypokalemia-achlorhydria syndrome, have been reported in previous reports. Read More

    Digital clubbing: forms, associations and pathophysiology.
    Br J Hosp Med (Lond) 2016 Jul;77(7):403-8
    Consultant Cardiologist in the Department of Cardiology, Hillingdon and Mount Vernon Hospitals NHS Foundation Trust, Middlesex.
    Among proposed mechanisms to explain digital clubbing, the release of cytokines, specifically vascular endothelial growth factor and platelet-derived growth factor, from aggregated platelets and megakaryocytes has emerged as the most likely explanation. This review describes these and other contributory processes. Read More

    [Pulmonary MALT lymphoma and paraneoplastic syndromes].
    Rev Mal Respir 2016 Nov 4;33(9):799-803. Epub 2016 May 4.
    Service de pneumologie, CHU Félix-Guyon, allée des Topazes, 97400 Saint-Denis, Réunion.
    Introduction: Primary pulmonary lymphoma is a rare disease; diagnosis is often delayed because of atypical clinical presentation and slow progression.

    Observation: A 42-year-old woman consulted because of haemoptysis. Chest CT-scan showed multiple nodular calcified masses. Read More

    Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
    J Korean Med Sci 2016 May 22;31(5):735-42. Epub 2016 Mar 22.
    Department of Internal Medicine, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea .
    Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic genes responsible for PDP. Read More

    Clubbing and hypertrophic osteoarthropathy: insights in diagnosis, pathophysiology, and clinical significance.
    Acta Clin Belg 2016 Jun 22;71(3):123-30. Epub 2016 Apr 22.
    c Department of General Internal Medicine , University Hospital Leuven , Belgium.
    Background: Digital clubbing and hypertrophic osteoarthropathy (HOA) form a diagnostic challenge. Subtle presentations of clubbing are often missed. The underlying pathophysiology remains unclear. Read More

    Inaccurate pulse CO-oximetry of carboxyhemoglobin due to digital clubbing: case report.
    Undersea Hyperb Med 2016 Jan-Feb;43(1):59-61
    Newer pulse CO-oximeters provide a non-invasive and quick means of measuring oxyhemoglobin, carboxyhemoglobin and methemoglobin. Clubbing has been reported to cause inaccuracy in pulse oximeters. We present a case of inaccurate carboxy-hemoglobin measurement by pulse CO-oximetry due to digital clubbing. Read More

    Primary hypertrophic osteoarthropathy: ultrasound and MRI findings.
    Pediatr Radiol 2016 May 3;46(5):727-30. Epub 2016 Mar 3.
    Clarendon Wing Radiology Department, Leeds Children's Hospital at The Leeds General Infirmary, Belmont Grove, Leeds, West Yorkshire, UK, LS2 9NS.
    Primary hypertrophic osteoarthropathy is a rare genetic disorder related to failures in prostaglandin metabolism. Patients present with joint pain, limb enlargement, skin thickening and finger clubbing. Radiographs show characteristic periosteal reaction and thickening along the long bones. Read More

    Successful treatment of pachydermoperiostosis with etoricoxib in a patient with a homozygous splice-site mutation in the SLCO2A1 gene.
    Br J Dermatol 2016 Feb 15. Epub 2016 Feb 15.
    Department of Dermatology, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
    Pachydermoperiostosis (PDP), also named primary hypertrophic osteoarthropathy (PHO: MIM 167100), is a rare genetic disease characterized by 3 major symptoms: pachydermia including cutis verticis gyrata (CVG), periostosis, and digital clubbing. Additional clinical signs and symptoms include seborrheic hyperplasia, hyperhidrosis, and arthropathy. This article is protected by copyright. Read More

    Hypertrophic Osteoarthropathy and Follicular Thyroid Cancer: A Rare Paraneoplastic Syndrome.
    Eur Thyroid J 2015 Dec 14;4(4):266-70. Epub 2015 Aug 14.
    Unité Thyroïde Tumeurs Endocrines, Groupe Hospitalier et Faculté de Médecine Pitié-Salpêtrière, Institut du Cancer, Université Pierre et Marie Curie, Paris, France.
    Background: Hypertrophic osteoarthropathy (HOA) is a rare condition characterized by bone and joint pain and digital clubbing usually associated with bronchopulmonary diseases. Primary HOA is rare and the pathogenesis remains unclear.

    Objectives: Cases of HOA as a paraneoplastic syndrome associated with thyroid carcinoma are very rare - only 2 cases have been described in the literature. Read More

    [Progress in genetic research on pachydermoperiostosis].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Feb;33(1):105-7
    State Key Laboratory of Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410013, China.
    Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease. Read More

    Cyclooxygenase-2 Expression in Non-Small Cell Lung Cancer Correlates With Hypertrophic Osteoarthropathy.
    Ann Thorac Surg 2016 Feb;101(2):e51-3
    Centre Hospitalier Universitaire Vaudois, Département de Chirurgie Thoracique, Lausanne, Switzerland. Electronic address:
    Hypertrophic osteoarthrpathy (HO) is a rare paraneoplasic syndrome associated with non-small cell lung cancer (NSCLC). The pathophysiology of HO is unknown but was recently related to enhanced levels of urine prostaglandin E2 (PGE2). Here, we report the case of a patient that presented HO in association with a resectable left upper lobe NSCLC. Read More

    Pachydermoperiostosis, a unique entity with distinctive clinical features.
    Dermatol Online J 2015 May 18;21(5). Epub 2015 May 18.
    National Institute of Health Sciences and Nutrition, Salvador Zubirán, Mexico City, Mexico.
    Pachydermoperiostosis, which occurs more frequently in men, is a rare entity with distinctive clinical features and an insidious onset.. We report the case of a 30-year-old man with a one-year history of acropachy, arthralgias, hiperhidrosis, and progressive skin thickening of the face and scalp. Read More

    Pachydermoperiostosis and bladder cancer.
    Dermatol Online J 2015 Jun 16;21(6). Epub 2015 Jun 16.
    San Camillo Hospital, Italy.
    Pachydermoperiostosis or the Touraine-Soulente-Golé syndrome is a rare monogenetic disorder characterized by pachydermia, periostosis and digital clubbing accounts for approximately 3∼5% of all patients with hypertrophic osteoarthropathy. Missense mutations in SLCO2A1 and HPGD genes could plausibly underlie the pathogenesis of pachydermoperiostosis. Patients have usually a favorable outcome with very few cases associated with cancer. Read More

    A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.
    Calcif Tissue Int 2015 Oct 2;97(4):336-42. Epub 2015 Jul 2.
    Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing, 100730, China.
    Primary hypertrophic osteoarthropathy (PHO) is a hereditary bone disease characterized by digital clubbing, periostosis, and pachydermia. The HPGD gene encoding 15-prostaglandin dehydrogenase and SLCO2A1 encoding one type of prostaglandin transporter were found to be responsible for PHO. Mutations of either gene would lead to increased level of prostaglandin E2 (PGE2), which might contribute to the constellation of the symptoms. Read More


    Pathological characterization of pachydermia in pachydermoperiostosis.
    J Dermatol 2015 Jul 11;42(7):710-4. Epub 2015 May 11.
    Department of Dermatology, Toho University School of Medicine, Tokyo, Japan.
    Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multiple-case clinicopathological correlative analysis has not been performed to date. Read More

    [Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Apr;32(2):213-7
    Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
    Objective: To identify the genetic cause for a Chinese Han family affected with primary hypertrophic osteoarthropathy.

    Methods: Whole blood and urine samples were collected from a patient and 7 unaffected relatives of the family. The coding sequences and intron/exon boundaries of HPGD and SLCO2A1 genes of the patient were amplified with polymerase chain reaction and sequenced. Read More

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