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    868 results match your criteria Pachydermoperiostosis

    1 OF 18

    A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
    Am J Med Genet A 2018 May;176(5):1253-1257
    Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
    Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17-year-old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin face with seborrhea from about 4 years. Read More

    [Identification of a HPGD mutation in three families affected with primary hypertrophic osteoarthropathy].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):156-159
    Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.
    Objective: To detect mutation of HPGD gene among three pedigrees affected with primary hypertrophic osteoarthropathy (PHO) by DNA sequencing and high-resolution melting (HRM) analysis.

    Methods: Genomic DNA was extracted from peripheral blood samples collected from the pedigrees. PCR and direct sequencing were carried out to identify potential mutations of the HPGD gene. Read More

    Secondary Hypertrophic Osteoarthropathy Associated With Pediatric Primary Lung Squamous Cell Carcinoma.
    J Clin Rheumatol 2018 Apr 13. Epub 2018 Apr 13.
    University of Washington School of Medicine Seattle, WA Division of Pediatric Radiology Department of Radiology University of Washington School of Medicine and Seattle Children's Hospital Seattle, WA. Division of Rheumatology Department of Pediatrics University of Washington School of Medicine and Seattle Children's Hospital Seattle, WA

    Incomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report.
    Indian J Nucl Med 2018 Apr-Jun;33(2):128-131
    Department of Nuclear Medicine and PET-CT, Apollo Hospitals, Chennai, Tamil Nadu, India.
    The primary hypertrophic osteoarthropathy (PHOA) (pachydermoperiostosis) is a rare genetic/hereditary disease characterized by skin changes (pachydermia), clubbing of fingers and periosteal thickening (periostitis) with sub-periosteal new bone formation. Here we describe a case of an adolescent male who presented with clubbing and polyarthralgia. On evaluation with scintigraphy and SPECT-CT, he was diagnosed to have incomplete form of PHOA(skeletal manifestations without skin changes). Read More

    Sterile Bronchopleural Fistula Following Surgical Removal of Primary Lung Leiomyoma Inducing Secondary Hypertrophic Osteoarthropathy.
    Am J Case Rep 2018 Mar 9;19:267-271. Epub 2018 Mar 9.
    College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
    BACKGROUND Leiomyomas are benign neoplasms of the smooth muscle. When found in the pulmonary system, a rare occurrence, leiomyomas can result in hypertrophic osteoarthropathy, or significant clubbing, associated with proliferation of long bone periosteum. Bronchopulmonary fistulas, or communications between the bronchial tree and pleural space, are an uncommon postoperative complication of pneumonectomies. Read More

    Pachydermoperiostosis in a patient with chronic hepatitis B virus infection referred as acromegaly: a case report.
    J Med Case Rep 2018 Mar 8;12(1):59. Epub 2018 Mar 8.
    Department of Medicine and Therapeutics, School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Legon, Accra, Ghana.
    Background: Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features. Vascular endothelial growth factors which have been implicated in the clinical features of pachydermoperiostosis, have also been shown to be present in chronic hepatitis and implicated in the malignant transformation of hepatitis B infection to hepatocellular carcinoma. To the best of our knowledge there is one reported case of pachydermoperiostosis with chronic hepatitis B infection. Read More

    Secondary hypertrophic osteoarthropathy in a male from the Early Medieval settlement of Lauchheim, Germany.
    Int J Paleopathol 2018 Mar 21;20:72-79. Epub 2017 Nov 21.
    Landesamt für Denkmalpflege im Regierungspräsidium Stuttgart, Stromeyersdorfstraße 3, 78467, Konstanz, Germany; Eberhard Karls University Tübingen, Institute for Archaeological Science, Rümelinstraße 23, 72070, Tübingen, Germany.
    Hypertrophic osteoarthropathy (HOA) is rarely diagnosed in archaeological human skeletons. Here, we report on the well-preserved skeleton of a middle-adult man from the early Medieval settlement site of Lauchheim (Germany) that exhibits pronounced multi-layered shell-like periosteal new bone formation in a bilaterally symmetric fashion on the long bones, the skeletal elements of the pelvis and those of the pectoral girdle. In addition, the two distal phalanges recovered show signs of osteoclastic resorption on their distal tuberosities. Read More

    Pachydermoperiostosis in a Patient with Crohn's Disease: Treatment and Literature Review.
    Iran J Med Sci 2018 Jan;43(1):81-85
    Medical Student, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
    Pachydermoperiostosis (PDP) is a rare disorder characterized by pachydermia, digital clubbing, periostitis, and an excess of affected males. It is the primary form of hypertrophic osteoarthropathy (HOA) and there are some rare associations of PDP with other disorders. Here we describe a patient with Crohn's disease associated with PDP. Read More

    Successful treatment of pachydermoperiostosis patients with etoricoxib, aescin, and arthroscopic synovectomy: Two case reports.
    Medicine (Baltimore) 2017 Nov;96(47):e8865
    Department of Orthopedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Beijing, China.
    Rationale: Pachydermoperiostosis (PDP) is a rare hereditary disorder that affects the skin and bones. PDP is characterized by periostosis, digital clubbing, and pachydermia. Previous studies demonstrated that increased prostaglandin E2 (PGE2) levels resulting from defective protein degradation pathways play a crucial role in PDP pathogenesis, and males were more commonly and severely affected than females. Read More

    Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.
    J Gastroenterol 2018 Jan 8. Epub 2018 Jan 8.
    Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
    Background: Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a hereditary disease caused by mutations in the SLCO2A1 gene and characterized by multiple small intestinal ulcers of nonspecific histology. SLCO2A1 is also a causal gene of primary hypertrophic osteoarthropathy (PHO). However, little is known about the clinical features of CEAS or PHO. Read More

    Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review.
    J Dermatol Sci 2018 Apr 28;90(1):21-26. Epub 2017 Dec 28.
    Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
    Background: Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis is a rare genetic disease which predominantly affects skin, bone and soft connective tissue. It is characterized by the triad of pachydermia, digital clubbing and periostosis of long bones. Arthralgia or arthritis is also present in most of the cases. Read More

    [A boy with digital clubbing].
    Ned Tijdschr Geneeskd 2017 ;161(0):D1807
    Maastricht Universitair Medisch Centrum+, afd. Kindergeneeskunde, Maastricht.
    A 4-year-old boy was referred because of pan-digital clubbing and watch-glass nails. Other remarkable findings were: surgical closure of a patent arterial duct, decreased knee-mobility and consanguineous parents. This combination is suggestive for primary hypertrophic osteoarthropathy (PHO; #OMIM 259100). Read More

    A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
    Ann Hum Genet 2018 May 28;82(3):171-176. Epub 2017 Dec 28.
    Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
    Primary hypertrophic osteoarthropathy (PHO) is a congenital multisystemic entity characterized by three major clinical symptoms: pachydermia, periostosis, and digital clubbing. Recently it has been reported that pathogenic mutations in two genes are known to be associated with PHO: HPGD and SLCO2A1. In the present study, a five-generation consanguineous Pakistani family harboring primary hypertrophic osteoarthropathy in autosomal-recessive pattern was ascertained. Read More

    Pachydermoperiostosis Masquerading as Acromegaly.
    J Endocr Soc 2017 Feb 16;1(2):109-112. Epub 2017 Jan 16.
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, OXE 7LE, United Kingdom.
    Context: Acromegaly usually is suspected on clinical grounds. Biochemical confirmation is required to optimize therapy, but there are other differential diagnoses.

    Case Description: We describe a 24-year-old Uzbek man who presented with many clinical symptoms and signs of apparent acromegaly. Read More

    Polyarthritis is a Rare Manifestation of Pachydermoperiostosis: A Case Report.
    Mymensingh Med J 2017 Oct;26(4):939-943
    Dr Md Faysal Ahmmed, Resident, Department of Rheumatology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.
    Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Gole syndrome, is a rare process, frequently inherited. In its complete form it is characterized by pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). Diagnosis can be made considering the typical clinical features and the histological feature. Read More

    Roles of Organic Anion Transporting Polypeptide 2A1 (OATP2A1/SLCO2A1) in Regulating the Pathophysiological Actions of Prostaglandins.
    AAPS J 2017 Dec 4;20(1):13. Epub 2017 Dec 4.
    Department of Membrane Transport and Biopharmaceutics, Faculty of Pharmaceutical Sciences, Kanazawa University, Kakuma-machi, Kanazawa, 920-1192, Japan.
    Solute carrier organic anion transporter family member 2A1 (OATP2A1, encoded by the SLCO2A1 gene), which was initially identified as prostaglandin transporter (PGT), is expressed ubiquitously in tissues and mediates the distribution of prostanoids, such as PGE, PGF, PGD and TxB. It is well known to play a key role in the metabolic clearance of prostaglandins, which are taken up into the cell by OATP2A1 and then oxidatively inactivated by 15-ketoprostaglandin dehydrogenase (encoded by HPGD); indeed, OATP2A1-mediated uptake is the rate-limiting step of PGE catabolism. Consequently, since OATP2A1 activity is required for termination of prostaglandin signaling via prostanoid receptors, its inhibition can enhance such signaling. Read More

    Touraine-Solente-Gole syndrome.
    Orbit 2018 Apr 17;37(2):97-101. Epub 2017 Oct 17.
    a Department of Ophthalmology, Nagri Eye Research Foundation & C H Nagri Eye Hospital , Ahmedabad , India.
    Touraine-Solente-Gole syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. Read More

    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 2018 Jan 28;106:96-102. Epub 2017 Sep 28.
    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 Dec 12;144(12):799-803. 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 (PGE) 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

    Giant oesophageal gastrointestinal stromal tumour presenting with dyspnoea and clubbed fingers.
    BMJ Case Rep 2017 Jul 26;2017. Epub 2017 Jul 26.
    Department of Surgical Pathology, Toho University Medical Center Omori Hospital, Ota-ku, Tokyo, Japan.
    Gastrointestinal stromal tumours (GISTs) are mesenchymal neoplasms of the gastrointestinal tract originating from the interstitial cells of Cajal. Giant oesophageal GISTs are rare since the oesophagus is rarely the primary site of GISTs, and they are usually diagnosed early due to complaints such as dysphagia. We present the case of a giant oesophageal GIST presenting with prominent clubbing. 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 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 E (PGE ) catabolism resulting in increased PGE 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.
    To analyze the clinical and genetic features of primary hypertrophic osteoarthropathy (PHO). 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.
    . 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

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