Search Our Scientific Publications & Authors

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

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

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

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

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

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

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

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

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.

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:

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

Harbor-UCLA Medical Center, Torrance.

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

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

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

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

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

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

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

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

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.

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.

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

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

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

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

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.

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 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

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

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

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

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