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Australas J Dermatol 2019 Mar 31. Epub 2019 Mar 31.

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

Indian J Dermatol Venereol Leprol 2019 Mar 12. Epub 2019 Mar 12.

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

Pediatr Radiol 2019 Apr 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

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

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

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

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

Int J Paleopathol 2019 Mar 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

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

Ann Lab Med 2019 01;39(1):105-108

Green Cross Genome, Yongin, Korea.

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

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.

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

Indian J Dermatol Venereol Leprol 2018 Jul-Aug;84(4):446-447

Department of Genetics, Hospital Universitario "Dr. José Eleuterio González", Monterrey, Nuevo León, México.

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

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

Am J Med Genet A 2018 05;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

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

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

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

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

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

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

J Med Case Rep 2018 Feb 16;12(1):38. Epub 2018 Feb 16.

Departamento de Endocrinología, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, IMSS, Mexico City, Mexico.

Background: Exophthalmos, myxedema, and osteoarthropathy syndrome is a very rare condition that is associated with Graves' disease. The presence of dermopathy and the involvement of joint/bone tissues indicate that it seems to be related with the severity of the autoimmune process. Owing to its low incidence, there is a lack of information regarding its treatment and clinical follow-up. Read More

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

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

J Gastroenterol 2018 Aug 8;53(8):907-915. 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

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

Ned Tijdschr Geneeskd 2017;161: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

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

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

J Clin Rheumatol 2018 Apr;24(3):164-167

Department of Rheumatology South Campus Ren Ji Hospital School of Medicine Shanghai Jiaotong University, Shanghai China

Respir Med 2017 Nov 2;132:226-231. Epub 2017 Nov 2.

Department of Respiratory Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address:

Background: Clubbing is associated with poor prognosis and is variably present in patients with idiopathic pulmonary fibrosis (IPF), but is also seen in other fibrotic interstitial lung diseases (ILDs). Little is known about the best methodology to assess clubbing in ILDs and, hence, the prevalence and clinical utility and clinical significance of clubbing. We therefore aimed to evaluate the agreement between different clubbing assessment methods in patients with fibrotic ILDs. Read More

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

AAPS J 2017 12 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

J Rheumatol 2017 Nov;44(11):1680-1681

Department of Rheumatology, Guy's and St. Thomas' NHS Foundation Trust.

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

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

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

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

Sci Rep 2017 08 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

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

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

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

Clin Med Res 2017 Jun 9;15(1-2):19-20. Epub 2017 May 9.

Professor of Medicine, University of Toronto, Rheumatology Department, Toronto, Canada.

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

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

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

Pan Afr Med J 2016;25:194. Epub 2016 Nov 25.

Department of Orthopaedics, Sahloul Hospital, Faculty of Medicine of Sousse, Sousse, Tunisia.