A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly [PDF]
Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound ...
Yukako Nakano +5 more
doaj +2 more sources
Primary hypertrophic osteoarthropathy: genetics, clinical features and management [PDF]
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Qi Lu +4 more
doaj +2 more sources
Pathological characterization of pachydermia in pachydermoperiostosis [PDF]
AbstractPachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies
Keiji Tanese +2 more
exaly +3 more sources
A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma [PDF]
Yan Jing Chen, Li Li Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, People’s Republic of ChinaCorrespondence: Li Li, Department of dermatology and venereology, West China Hospital, Sichuan University,
Chen YJ, Li L
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Effect of Rabeprazole on Pachydermia Laryngis in Patients with Laryngopharyngeal Reflux
Introduction Laryngopharyngeal reflux (LPR) is defined as the retrograde flow of gastric content into larynx and pharynx. It is a multifactorial syndrome.
Ramya K +3 more
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Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis [PDF]
Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and the absence of extracutaneous involvement.
Hanna Ługowska-Umer +4 more
doaj +2 more sources
Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study [PDF]
Background/Aims: Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 gene.
Hee Seung Hong +17 more
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Comprehensive Treatment of a Rare Case of Complete Primary Pachydermoperiostosis with Large Facial Keloid Scars: A Case Report and Literature Review [PDF]
Introduction: Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare autosomal dominant disease with primary clinical features of pachydermia (thickening of skin) and periostosis (new bone formation).
Haibo Zhao +3 more
doaj +2 more sources
Acquired digital clubbing in 2 healthy young men: The incomplete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy) [PDF]
Mary Kate Staunton, BS +1 more
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THE ANATOMY OF PACHYDERMIA LAEVIS (ARCHAEOGASTROPODA: ‘PELTOSPIRIDAE’) [PDF]
The anatomy of Pachydermia laevis Waren & Bouchet, 1989 is investigated. It is a deep-sea gastropod and restricted to hydrothermal vents of the East Pacific Rise. Its anatomy resembles that of Melanodrymia aurantiaca Hickman, 1984 (Melanodrymiidae) in most respects, except that its gonopericardial duct opens into the renopericardial duct, not into the ...
exaly +2 more sources

