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QJM 2022 Jun 22. Epub 2022 Jun 22.

Department of General Internal Medicine, Hiroshima University Hospital, Hiroshima, Japan.

Clin Rheumatol 2022 Jun 16. Epub 2022 Jun 16.

Division of Rheumatology, Department of Internal Medicine, School of Medicine, Universidad de Antioquia, Hospital Universitario de San Vicente Fundación, Calle 10E # 25-165, 050021, Medellín, Colombia.

Gut Liver 2022 May 25. Epub 2022 May 25.

Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Background/aims: Chronic enteropathy associated with gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.

Methods: From July 2018 to July 2021, we performed Sanger sequencing of the gene in 46 patients with chronic intestinal ulcers. Read More

BMJ Case Rep 2022 May 17;15(5). Epub 2022 May 17.

Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, Delhi, India

Touraine-Solente-Gole syndrome is a rare, autosomal dominant multisystem disorder arising from dysregulated prostaglandin synthesis due to underlying genetic defects. Early symptoms are related to skin and soft tissue involvement (coarse facial features, widening of wrists, etc) and may thus be overlooked unless a careful physical examination is carried out. Secondary causes of pachydermoperiosteitis must always be looked for in such patients. Read More

Mayo Clin Proc 2022 05;97(5):941-942

Department of General Surgery, Peking University First Hospital, Beijing, China. Electronic address:

N Engl J Med 2022 03;386(9):e22

Armed Forces Medical College, Pune, India

Clin Imaging 2022 Apr 4;84:38-42. Epub 2022 Jan 4.

Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

Hypertrophic osteoarthropathy (HOA) is a disease characterized by abnormal skin findings and bone deformities related to subperiosteal bone formation. The disease can be associated with major systemic manifestations (secondary form) or present with absent or less prominent systemic signs and symptoms (primary form). The primary form is called pachydermoperiostosis (PDP). Read More

Endoscopy 2022 Jan 26. Epub 2022 Jan 26.

Digestive Endoscopic Center, Shanghai Jiaotong University Affiliated Sixth People's Hospital, Shanghai, China.

J Bone Miner Res 2022 03 3;37(3):484-493. Epub 2022 Jan 3.

Department of Endocrinology, Key Laboratory of Endocrinology, NHC, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Periosteosis refers to pathological woven bone formation beneath the cortical bone of the long bones. It is an imaging hallmark of primary hypertrophic osteoarthropathy (PHO) and also considered as one of the major diagnostic criteria of PHO patients. Up to date, detailed information on bone quality changes in long bones of PHO patients is still missing. Read More

Ceylon Med J 2020 12;65(4):118-119

National Hospital of Sri Lanka.

J Clin Endocrinol Metab 2022 05;107(6):1767-1788

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

Pseudoacromegaly encompasses a heterogeneous group of conditions in which patients have clinical features of acromegaly or gigantism, but no excess of GH or IGF-1. Acromegaloid physical features or accelerated growth in a patient may prompt referral to endocrinologists. Because pseudoacromegaly conditions are rare and heterogeneous, often with overlapping clinical features, the underlying diagnosis may be challenging to establish. Read More

Thorac Surg Clin 2021 Nov;31(4):519-537

Hospital of the University of Pennsylvania, Ravdin 6, 3400 Spruce Street, Philadelphia, PA 19104, USA.

Paraneoplastic syndromes are clinical entities associated with cancers and often overlap with metabolic and endocrine syndromes. The cell types of lung cancer involved are frequently small cell, squamous cell, adenocarcinoma, large cell, and carcinoid tumor. A number of neurologic paraneoplastic syndromes have been described for which the tumor product remains unknown. Read More

Exp Ther Med 2021 Nov 20;22(5):1330. Epub 2021 Sep 20.

Department of Endocrinology, 'Carol Davila' University of Medicine and Pharmacy, 050474 Bucharest, Romania.

Acromegaly is a hormonal disorder which occurs as the result of growth hormone (GH) and insulin growth factor 1 (IGF-1) over-secretion; both hormones are related to skin anomalies. The skin acts as a large endocrine organ, hosting GH receptors in every cell while IGF-1 receptors are expressed only in keratinocytes. This review is a literature review of skin anomalies found in acromegaly, either related to the disease itself or associated with related complications such as secondary diabetes mellitus, or involving associated conditions such as genetic syndromes. Read More

Indian J Dermatol Venereol Leprol 2021 Nov-Dec;87(6):863-864

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Pediatr Rheumatol Online J 2021 Jul 14;19(1):113. Epub 2021 Jul 14.

Division of Rheumatology, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.

Introduction: Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence should prompt the clinician to search for the underlying etiology. The aim of this review is to discuss disorders with which acro-osteolysis is associated and their distinguishing features, with a focus on the pediatric population. Read More

J Dermatol 2021 Sep 11;48(9):1442-1446. Epub 2021 Jun 11.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Pachydermoperiostosis (PDP) is a genetic disease characterized by digital clubbing, periostosis, and pachydermia caused by mutated HPGD or SLCO2A1. Plasma prostaglandin (PG)E levels are increased in these patients. However, other eicosanoids have not been quantitated. Read More

J Invest Dermatol 2021 12 2;141(12):2973-2975. Epub 2021 Jun 2.

Department of Dermatology, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan; Singapore Immunology Network (SIgN), Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore; Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A∗STAR), Singapore, Singapore.

Skin Appendage Disord 2021 Apr 11;7(3):237-242. Epub 2021 Mar 11.

Division of Dermatology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Dig Liver Dis 2021 08 26;53(8):1062-1064. Epub 2021 May 26.

Department of Gastroenterology and Hepatology, Tianjin Medical University General Hospital, No. 154, Anshan Road, Heping District, Tianjin 300052, China. Electronic address:

J Clin Res Pediatr Endocrinol 2021 May 24. Epub 2021 May 24.

Karadeniz Technical University Faculty of Medicine, Medical Geneticist, Specialist, Erzurum, Turkey.

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy is a rare genetic disorder characterized bypachyderma and periostosis.Acromegaly is a condition caused by excessive secretion of growth hormone leading to elevated insulin growth factor-1 levels, which is characterised by somatic overgrowth and physical disfigurement notably affecting hands and feet. We presented two cases referred with an initial diagnosis of acromegaly and were ultimately diagnosed as PDP. Read More

Eur J Dermatol 2021 Apr;31(2):249-251

Dermatological Department, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.

J Bone Miner Res 2021 08 5;36(8):1459-1468. Epub 2021 May 5.

Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as a recessive or irregular dominant trait and characterized by digital clubbing, pachydermia, and periostosis. Biallelic mutations in HPGD and SLCO2A1, disturbing prostaglandin E (PGE ) catabolism and leading to increased circulating PGE level, cause PHO autosomal recessive 1 (PHOAR1) and PHO autosomal recessive 2 (PHOAR2), respectively. However, no causative genes have been reported for PHO autosomal dominant (PHOAD). Read More

Cornea 2022 Jan;41(1):113-115

Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, NY.

Purpose: To report a case of severe phlyctenular keratoconjunctivitis in a patient with pachydermoperiostosis (PDP).

Methods: A 29-year-old Hispanic man presented with a 1-year history of vision loss in the right eye and redness, photophobia, and pain in both eyes. Associated symptoms included enlargement of his hands and feet for 3 years, acne, and joint pain. Read More

Clin Exp Dermatol 2021 Jun 22;46(4):789-791. Epub 2021 Feb 22.

Departments of, Department of, Dermatology, Galliera Hospital, Genoa, Italy.

Gan To Kagaku Ryoho 2021 Feb;48(2):297-299

Dept. of Surgery, Kishiwada Tokushukai Hospital.

Background: Hypertrophic osteoarthropathy(HOA)is a syndrome that has three signs, the digital finger, periosteal neoplasia of the iliac bone, and arthritis. Among them, the secondary 1 associated with lung disease is called pulmonary hypertrophic osteoarthropathy(PHO). It is reported that many of the underlying diseases are associated with primary lung cancer, but in Japan, this is a rare condition with about 0. Read More

J Orthop Translat 2021 May 28;28:10-11. Epub 2021 Jan 28.

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Fukuoka, Japan.

Vet Clin North Am Small Anim Pract 2021 Mar;51(2):365-382

Small Animal Orthopedic Surgery, The Ohio State University, 601 Vernon L Tharp Street, Columbus, OH 43210, USA. Electronic address:

Several juvenile diseases affect the canine forelimb. The most common are hypertrophic osteodystrophy, panosteitis, and retained cartilaginous core. Panosteitis and hypertrophic osteodystrophy tend to be self-limiting, with a good long-term prognosis, although severe cases can develop. Read More

Rheumatology (Oxford) 2021 11;60(11):5481-5482

Department of Rheumatology and Immunology.

Stem Cell Res 2021 04 1;52:102217. Epub 2021 Feb 1.

Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address:

Primary hypertrophic osteoarthropathy, autosomal recessive type 1 (PHOAR1, MIM259100) is caused by mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD, MIM601688) on chromosome 4q34. An induced pluripotent stem cells (iPSCs) line was generated in our lab from peripheral blood mononuclear cells (PBMCs) of a 2-year-7-month-old girl with PHOAR1 carrying a homozygous mutation of c.310_311del in HPGD. Read More

Clin Case Rep 2021 Jan 18;9(1):46-49. Epub 2020 Dec 18.

Instituto de Medicina Integral Prof. Fernando Figueira Recife Brazil.

Pachydermoperiostosis, a rare condition, is characterized by pachydermia, finger clubbing, and periostosis. We present an unusual treatment for frontal rhytids, for which we used a tissue expander that contributed to thinning of the skin and the depth of the rhytids prior to frontal lifting. The results were maintained after one year. Read More