928 results match your criteria Pachydermoperiostosis


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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2020-236034DOI Listing

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

J Emerg Med 2020 May 10. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jemermed.2020.04.028DOI Listing

Hypertrophic osteoarthropathy.

Best Pract Res Clin Rheumatol 2020 Apr 11:101507. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.berh.2020.101507DOI Listing

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000324DOI Listing
July 2020
0.416 Impact Factor

Paravertebral extramedullary haemopoiesis in a patient with pachydermoperiostosis.

Br J Haematol 2020 Apr 8. Epub 2020 Apr 8.

Faculdade de Medicina de Campos, Hospital Escola Álvaro Alvim, Rio de Janeiro, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.16649DOI Listing

Touraine-Solente-Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis.

JPRAS Open 2019 Sep 27;21:6-13. Epub 2019 Apr 27.

Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok 10700, Thailand.

Touraine-Solente-Gole syndrome (pachydermoperiostosis [PDP] or primary idiopathic hypertrophic osteoarthropathy [HOA]) is a rare hereditary disorder that is characterized by a triad of manifestations that consists of skin changes (pachydermia), abnormal bone and joint manifestations (periostosis and/or artritis), and digital clubbing (acropachia). Here, we report the case of 24-year-old male who presented with severe bilateral true eyelid ptosis. Physical examination revealed severe ptosis with poor function of the levator palpabrae superioris muscle, thickening of and deep grooves in facial skin (especially at the frontal region), and abnormal appearance of the scalp with accentuating folds and deep furrows (cutis verticis gyrata). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpra.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061552PMC
September 2019

Pachydermoperiostosis mimicking the acral abnormalities of acromegaly.

Endocrine 2020 Feb 8;67(2):499-500. Epub 2020 Jan 8.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-019-02168-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026203PMC
February 2020

Pachydermoperiostosis Associated with Myelofibrosis: A Rare Case Report.

Indian J Dermatol 2019 Nov-Dec;64(6):501-503

Department of Dermatology, Hospital Universitário Clementino Fraga Filho - Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. E-mail:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijd.IJD_360_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862377PMC
January 2020

Complete form of pachydermoperiostosis.

An Bras Dermatol 2020 Jan - Feb;95(1):98-101. Epub 2019 Dec 18.

Dermatology Service, Hospital Universit´rio Onofre Lopes, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.

Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.abd.2019.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058884PMC

Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.

Orphanet J Rare Dis 2019 12 26;14(1):297. Epub 2019 Dec 26.

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

Background: Primary hypertrophic osteoarthropathy (PHO) is a rare disease related to HPGD and SLCO2A1 gene mutation. Gastrointestinal involvement of PHO is even rarer with unknown pathogenesis. Clinical features of GI complication in PHO mimics other auto-immune based bowel entities, such as inflammatory bowel diseases and cryptogenic multifocal ulcerous stenosing enteritis (CMUSE). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1264-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933916PMC
December 2019

Pachydermoperiostosis: A clinicopathological description.

J Curr Ophthalmol 2019 Dec 29;31(4):450-453. Epub 2019 Mar 29.

Pathology Department, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Purpose: To report a case of pachydermoperiostosis (PDP) and a review of the literature.

Methods: A 32-year-old man was referred to our clinic with bilateral eyelid swelling and blepharoptosis. On examination, marked blepharoptosis was noted, and his eyelids were found to be floppy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.joco.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896461PMC
December 2019

Touraine-Solente-Gole syndrome.

BMJ Case Rep 2019 Nov 19;12(11). Epub 2019 Nov 19.

Department of Medicine, All India Institute of Medical Sciences, New Delhi, India

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-232238DOI Listing
November 2019

Hypertrophic Osteoarthropathy in a Patient With Primary Hepatic Angiosarcoma.

Clin Nucl Med 2020 Jan;45(1):57-59

Department of Nuclear Medicine, The Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.

Primary hepatic angiosarcoma was diagnosed in a 59-year-old woman who presented an arthralgia of limbs and dry cough for 6 weeks. Physical examination revealed digital clubbing. A Tc-MDP bone scintigraphy showed diffusely increased uptake along the cortical margins of long bones, suggesting hypertrophic osteoarthropathy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/RLU.0000000000002817DOI Listing
January 2020

A case of primary hypertrophic osteoarthropathy: Management considerations.

Int J Rheum Dis 2019 Nov 24;22(11):2080-2081. Epub 2019 Oct 24.

Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1756-185X.13736DOI Listing
November 2019

Impaired bone microarchitecture in distal interphalangeal joints in patients with primary hypertrophic osteoarthropathy assessed by high-resolution peripheral quantitative computed tomography.

Osteoporos Int 2020 Jan 23;31(1):153-164. Epub 2019 Oct 23.

Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, 5/F Lui Che Woo Clinical Sciences Building, Prince of Wales Hospital, Shatin, N.T., Hong Kong, SAR, Hong Kong.

This study aimed to investigate the bone impairment in finger joints in PHO patients by HR-pQCT. Results showed distinguished differences in bone architecture and biomechanics parameters at DIPs between PHO patients and healthy controls using HR-pQCT assessment. Besides, serum PGE2, hsCRP and ESR levels were found negatively correlated with total vBMD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00198-019-05168-3DOI Listing
January 2020

Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-associated Primary Hypertrophic Osteoarthropathy.

Intern Med 2020 Feb 15;59(4):491-494. Epub 2019 Oct 15.

Department of Gastroenterology, Oita University, Japan.

Patients with chronic enteropathy associated with SLCO2A1 (CEAS) develop multiple circular, longitudinal, or eccentric ulcers in the ileum. It is sometimes difficult to distinguish CEAS from Crohn's disease. CEAS and primary hypertrophic osteoarthropathy (PHO) are together known to be caused by a mutation of SLCO2A1 gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.3369-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056367PMC
February 2020
1 Read

[Paraneoplastic rheumatologic syndromes in the elderly].

Wiad Lek 2019 ;72(9 cz 1):1646-1654

Katedra i Klinika Reumatologii i Układowych Chorób Tkanki Łącznej, Uniwersytet Medyczny w Lublinie, Lublin, Polska.

Risk of development of malignant tumors increases in elderly people. There are numerous clinical symptoms mimicking primary rheumatic diseases in the course of cancers, referred to as paraneoplastic rheumatologic syndromes. They are not caused directly by the tumor or its metastases, but result from the action of biologically active substances released by cancer cells and abnormal immunological reactions. Read More

View Article

Download full-text PDF

Source
October 2019
1 Read

Bisphosphonates use in Pachydermoperiostosis.

J Assoc Physicians India 2019 Sep;67(9):87-90

Resident of Chest Medicine, Cheat and TB Hospital, Govt. Medical College, Patiala, Punjab.

Pachydermoperiostosis is a rare genetic disorder which commonly presents with clubbing, bone pains and skin changes. The treatment is mostly unsatisfactory. We tried bisphosphonates in our case with encouraging results. Read More

View Article

Download full-text PDF

Source
September 2019
8 Reads

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial.

J Orthop Translat 2019 Jul 31;18:109-118. Epub 2018 Oct 31.

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.

Background: Primary hypertrophic osteoarthropathy (PHO) is a rare disease involving joint, bone and skin. Two underlying genes responsible for this disease-hydroxyprostaglandin dehydrogenase () and solute carrier organic anion transporter family, member 2A1 ()-are both associated with aberrant accumulation of prostaglandin E2 (PGE2). Cyclooxygenase-2 (COX-2) is a key enzyme in PGE2 synthesis. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S2214031X183010
Publisher Site
http://dx.doi.org/10.1016/j.jot.2018.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718875PMC
July 2019
3 Reads

Dyspnoea, clubbing, cirrhosis, and bubbles in both sides of the heart suggests hepatopulmonary syndrome.

Lancet 2019 Aug 8;394(10197):510. Epub 2019 Aug 8.

Liver Transplant Unit, Austin Hospital, Heidelberg, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(19)31720-9DOI Listing
August 2019
2 Reads

Incomplete Pachydermoperiostosis Associated With Excessive Alcohol Intake.

J Clin Rheumatol 2019 Jul 9. Epub 2019 Jul 9.

Harbor-UCLA Medical Center, Torrance.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/RHU.0000000000001095DOI Listing
July 2019
3 Reads
1.245 Impact Factor

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.

Cytogenet Genome Res 2019 15;158(3):126-132. Epub 2019 Jun 15.

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000500988DOI Listing
September 2019
13 Reads

Feet Deformity and Gait Disturbance in a Patient with Pachydermoperiostosis (PDP). Case Study.

Ortop Traumatol Rehabil 2019 Apr;21(2):123-129

Klinika Ortopedii i Ortopedii Dziecięcej, Uniwersytet Medyczny w Łodzi, Polska / Orthopedics and Pediatric Orthopedics Department, Medical University of Łódź, Poland.

Pachydermoperiostosis is a rare condition representing a primary form of hypertrophic osteoarthropathy. It presents in different stages. Patients often overlook early symptoms, because they are benign. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5604/01.3001.0013.1916DOI Listing
April 2019
8 Reads

Nociceptive pain unmasking a serious pathology - paraneoplastic hypertrophic osteoarthropathy: A case report.

Medicine (Baltimore) 2019 Jun;98(23):e15900

University Emergency Hospital Bucharest, Neurology Department.

Rationale: Hypertrophic osteoarthropathy, also named Pierre Marie-Bamberger syndrome, represents a rare medical condition that may be considered either a primary or a secondary disease, and lung malignancies are responsible for more than two-thirds of the cases with secondary forms of the disease.

Patient Concerns: We present the case of a 41-year-old man referred to our Neurology Department for pain that was considered secondary to cervical disc protrusions. The neurologic examination was normal. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000015900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571421PMC
June 2019
8 Reads

Infectious versus non-infectious causes of oligoarticular inflammatory arthritis: A prospective study from a tertiary care hospital in north India.

Drug Discov Ther 2019 ;13(2):96-100

Department of Medicine, All India Institute of Medical Sciences.

Oligoarticular arthritis (inflammation of upto 4 joints) has a wide range of infectious and non-infectious etiologies. The aim of our study was to identify the features which could help in the differentiation of infectious from non-infectious arthritis. The study was prospective and observational, and included 100 patients with oligoarticular inflammatory arthritis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5582/ddt.2019.01019DOI Listing
September 2019
9 Reads

The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation.

Endocr Connect 2019 Jun;8(6):736-744

Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Background: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic disease characterized by digital clubbing, periostosis and pachydermia. Two genes, HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and prostaglandin transporter (PGT), respectively, have been reported to be related to PHO. Deficiency of aforementioned two genes leads to failure of prostaglandin E2 (PGE2) degradation and thereby elevated levels of PGE2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EC-19-0149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547301PMC
June 2019
19 Reads

Hypertrophic osteoarthropathy in an adult macaque.

Int J Paleopathol 2019 06 28;25:39-45. Epub 2019 Apr 28.

Institute of Archaeology, University College London, 31-34 Gordon Square, London, WC1H 0PY, United Kingdom.

Objective: To evaluate through differential diagnosis whether hypertrophic osteoarthropathy was present on an adult macaque skeleton.

Materials: Skeletal remains of a well-preserved adult macaque (Macaca) of unknown species curated by the archaeology department at University College London.

Methods: Macroscopic and radiographic evaluation of pathological lesions. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S18799817173013
Publisher Site
http://dx.doi.org/10.1016/j.ijpp.2019.04.002DOI Listing
June 2019
14 Reads

Inflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases.

Oxf Med Case Reports 2019 Apr 16;2019(4):omy128. Epub 2019 Apr 16.

Department of Rheumatology, National Center for Rheumatic Diseases(NCRD), Kathmandu 44600, Nepal.

Pachydermoperiostosis is a rare genetic disorder characterized by skin thickening, digital clubbing and periostitis. The pathogenesis is incompletely understood and there are no proven treatments for its manifestations. Although arthritis has been reported in 20-40% cases, most are non-inflammatory in nature and usually treated symptomatically with steroids or NSAIDs. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/omcr/article/doi/10.1093/omcr/omy12
Publisher Site
http://dx.doi.org/10.1093/omcr/omy128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467096PMC
April 2019
18 Reads

Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family.

J Endocrinol Invest 2019 Oct 19;42(10):1245-1252. Epub 2019 Apr 19.

Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.

Purpose: Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis and pachydermia with defects in the degradation of prostaglandin E2 (PGE2). Mutations in SLCO2A1 gene-encoding prostaglandin transporter (PGT) resulted in PHO, autosomal recessive 2 (PHOAR2). The spectrum of mutations and variable clinical complications of PHOAR2 has been delineated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40618-019-01048-zDOI Listing
October 2019
18 Reads

Acral enlargement without growth hormone excess: a clinical conundrum.

BMJ Case Rep 2019 Apr 11;12(4). Epub 2019 Apr 11.

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2018-229046DOI Listing
April 2019
3 Reads

A novel mutation in the SLCO2A1 gene in a Chinese family with pachydermoperiostosis.

Australas J Dermatol 2019 Nov 31;60(4):e348-e350. Epub 2019 Mar 31.

Dermatological Department, Hua Zhong University of Science and Technology Affiliated the First Wuhan Hospital, Wuhan, Hubei Province, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ajd.13041DOI Listing
November 2019
9 Reads

Complete form of pachydermoperiostosis with cutis verticis gyrata resulting from the gene mutation.

Indian J Dermatol Venereol Leprol 2019 Nov-Dec;85(6):681

Department of Dermatovenerology, West China Hospital, Sichuan University, Sichuan, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijdvl.IJDVL_911_17DOI Listing
March 2020
7 Reads

Review of paraneoplastic syndromes in children.

Pediatr Radiol 2019 04 16;49(4):534-550. Epub 2019 Mar 16.

Department of Radiology, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02215, USA.

Paraneoplastic syndromes are defined as clinical syndromes that are not related to direct tumor invasion or compression but are secondary to tumor secretion of functional peptides/hormones or related to immune cross-reactivity with normal host tissue. Paraneoplastic syndromes have a wide range of presentations and can present before the primary malignancy or tumor recurrence is diagnosed. They can mimic non-neoplastic processes, making detection, diagnosis and treatment difficult. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-019-04371-yDOI Listing
April 2019
40 Reads

Complete primary pachydermoperiostosis: A case report from Jordan and review of literature.

Clin Case Rep 2019 Feb 9;7(2):346-352. Epub 2019 Jan 9.

Special Surgery Department Jordan University Hospital Amman Jordan.

Complete Primary Pachydermoperiostosis is a rare syndrome that presents with skin and skeletal manifestations. Though diagnosis can be made on the basis of the classic clinical and radiological features, it is often missed due to variable presentations. Therefore, it is important to know about this syndrome to reach correct diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389490PMC
February 2019
7 Reads

Pachydermoperiostosis (Touraine-Solente-Gole syndrome): a case report.

J Med Case Rep 2019 Feb 21;13(1):39. Epub 2019 Feb 21.

Tribhuvan University Institute of Medicine, Maharajgunj, Kathmandu, Nepal.

Background: Pachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly. Clinical presentations of PDP can be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-018-1961-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383214PMC
February 2019
14 Reads

Thyroid-Related Orbitopathy, Restrictive Strabismus, Dermopathy, and Acropachy.

JAMA Ophthalmol 2018 12 13;136(12):e183217. Epub 2018 Dec 13.

Division of Oculofacial Plastic and Reconstructive Surgery, Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2018.3217DOI Listing
December 2018

A male Korean who was diagnosed with chronic enteropathy associated with (CEAS): case report with literature review.

BMJ Open Gastroenterol 2018 23;5(1):e000223. Epub 2018 Oct 23.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Keio University, Tokyo, Japan.

Objective: To further disseminate the nomenclature of chronic enteropathy associated with SLCO2A1 (CEAS), especially for physicians in China and Korea where the genetic feature of gene mutations related hypertrophic osteoarthropathy and pachydermia had been extensively studied. gene mutations related hypertrophic osteoarthropathy and pachydermia had been extensively studied.

Design: A case report with literature review of gene mutations-related disorders. Read More

View Article

Download full-text PDF

Source
http://bmjopengastro.bmj.com/lookup/doi/10.1136/bmjgast-2018
Publisher Site
http://dx.doi.org/10.1136/bmjgast-2018-000223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202987PMC
October 2018
20 Reads

Novel SLCO2A1 mutations cause gender differentiated pachydermoperiostosis.

Endocr Connect 2018 Aug 1. Epub 2018 Aug 1.

Y Wu, Department of Biochemistry and Molecular Biology, Center for DNA Typing, Fourth Military Medical University, Xi'an, China.

Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1 which involved in prostaglandin E2 metabolism. Here we report 5 PHO patients from 4 non-consanguineous families. Read More

View Article

Download full-text PDF

Source
https://ec.bioscientifica.com/downloadpdf/journals/ec/aop/ec
Web Search
https://ec.bioscientifica.com/view/journals/ec/aop/ec-18-032
Publisher Site
http://dx.doi.org/10.1530/EC-18-0326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223238PMC
August 2018
12 Reads

Co-morbidity with hypertrophic osteoarthropathy: A possible Iron Age Sarmatian case from the Volga steppe of Russia.

Int J Paleopathol 2019 03 5;24:66-78. Epub 2018 Oct 5.

Department of Electronic Devices, St. Petersburg State Electrotechnical University «LETI», 5 Professora Popova street, St. Petersburg, Russia. Electronic address:

Purpose: Hypertrophic osteoarthropathy (HOA) is a condition that can be inherited or acquired. It causes diffuse periosteal new bone formation on the long bones, with a predilection for the appendicular skeleton. When acquired, it is a nonspecific indicator of systemic disease that arises following a primary condition. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijpp.2018.09.007DOI Listing
March 2019
25 Reads

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Clin Chim Acta 2018 Dec 4;487:264-269. Epub 2018 Oct 4.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao tong University School of Medicine, Shanghai 200127, PR China; Institute of Pediatric Translational Medicine, Shanghai Jiao tong University School of Medicine, Shanghai 200127, PR China. Electronic address:

Background: Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous systematic disorder caused by mutations in genes HPGD and SLCO2A1. The purpose of the present study is to provide useful information for the early and precise diagnosis of PHO and identify causative mutations in Chinese PHO children.

Methods And Results: The clinical manifestations, radiographic features of seven Chinese pediatric patients were systematically analyzed. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00098981183053
Publisher Site
http://dx.doi.org/10.1016/j.cca.2018.10.005DOI Listing
December 2018
15 Reads
2.820 Impact Factor

[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Jan;43(1):100-105

Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied. All exons of the SLCO2A1 and HPGD gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. To assess the damaging effects of missense mutations in silico, the online database, PolyPhen-2 and SIFT were used. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11817/j.issn.1672-7347.2018.01.016DOI Listing
January 2018
39 Reads

Congenital nail clubbing.

J Dermatol 2019 Mar 27;46(3):e101-e102. Epub 2018 Aug 27.

Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/1346-8138.14614
Publisher Site
http://dx.doi.org/10.1111/1346-8138.14614DOI Listing
March 2019
42 Reads

Clubbing and pachydermoperiostosis.

Authors:
M-H Lin C-H Hsieh

QJM 2018 Nov;111(11):833-834

Division of Endocrinology and Metabolism, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

View Article

Download full-text PDF

Source
https://academic.oup.com/qjmed/article/111/11/833/5040729
Publisher Site
http://dx.doi.org/10.1093/qjmed/hcy132DOI Listing
November 2018
33 Reads

Pachydermoperiostosis Mimicking Acromegaly: A Case Report.

Indian Dermatol Online J 2018 May-Jun;9(3):182-184

Department of Dermatology, Venereology and Leprosy, Calcutta School of Tropical Medicine, Kolkata, West Bengal, India.

Pachydermoperiostosis is a rare, hereditary disease commonly presenting with digital clubbing, pachyderma, and periosteal hypertrophy. Coarsening of facial features and spade-like enlargement of hands and feet may give rise to a diagnostic dilemma between pachydermoperiostosis and acromegaly. This report highlights a case of a 36-year-old man who presented with broadening of hands and feet, facial skin thickening, and edematous and drooping eyelids for the last 10 years. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/idoj.IDOJ_230_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956866PMC
June 2018
46 Reads

Comprehensive Surgical Strategies for the Management of Pachydermoperiostosis.

Facial Plast Surg 2018 Jun 15;34(3):330-334. Epub 2018 May 15.

Department of Dermatology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

The cosmetic and functional deformities induced by thickened folds and furrows are the main complaints of patients in pachydermoperiostosis (PDP). However, traditional drug therapy only has a limited effect for its unclear genetic pathogenesis. Surgical treatment has now become one of the optimal strategies mainly aiming for its cosmetic improvement. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1653992DOI Listing
June 2018
13 Reads

Hypertrophic osteoarthropathy mimicking a reactive arthritis: a case report and review of the literature.

BMC Musculoskelet Disord 2018 May 14;19(1):145. Epub 2018 May 14.

Department of Medical Sciences, University of Trieste, Cattinara Teaching Hospital, Strada di Fiume 449, 34149, Trieste, Italy.

Background: Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by abnormal proliferation of skin and periosteal tissues of the extremities. It can be a rare hereditary disease (pachydermoperiostosis) or can be secondary to various diseases, though mostly lung malignancies. Here, we report an unusual clinical presentation of HOA. Read More

View Article

Download full-text PDF

Source
https://bmcmusculoskeletdisord.biomedcentral.com/articles/10
Publisher Site
http://dx.doi.org/10.1186/s12891-018-2068-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952696PMC
May 2018
43 Reads