Results 41 to 50 of about 87,294 (214)

Pachydermoperiostosis Mimicking Inflammatory Arthritis: Case Description and Narrative Review

Rheumato, 2023
Pachydermoperiostosis (PDP), also called primary hypertrophic osteoarthropathy (HOA), is a rare genetic disease with typical thickening of the skin (pachydermia) and rheumatic manifestations, with clubbing of the fingers and toes and periostosis of the ...
AKM Kamruzzaman, Maisha Farzana, Md Mainuddin Sohel, Emrul Kaiser, Nobendu Chowdhury, Md Hafizur Rahman, Syed Atiqul Haq, Johannes J. Rasker   +7 more
doaj   +1 more source

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

A case report of an extremely rare association of ankylosing spondylitis with pachydermoperiostosis

Clinical Case Reports, Volume 11, Issue 5, May 2023., 2023
Key Clinical Message We describe a case of a young man with features of pachydermoperiostosis and spondyloarthropathy. By describing this rarity, we aim to help build a database for future studies and construct a management plan that rheumatologists and clinicians can use.
Faiq I. Gorial, Nabaa Ihsan Awadh, Maryam A. Hamzah   +2 more
wiley   +1 more source

Pachydermoperiostosis in a patient with chronic hepatitis B virus infection referred as acromegaly: a case report

Journal of Medical Case Reports, 2018
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.
Yacoba Atiase, Ernest Yorke, Josephine Akpalu, Bismark Opoku-Asare, Patrick Adjei, Maame Boatemma Amissah-Arthur, Albert Akpalu   +6 more
doaj   +1 more source

Reprogramming of Mitochondrial Respiratory Chain Complex by Targeting SIRT3‐COX4I2 Axis Attenuates Osteoarthritis Progression

Advanced Science, Volume 10, Issue 10, April 5, 2023., 2023
The SIRT3‐medicated post‐translational acetylation of the mitochondrial respiratory chain has therapeutic potential for the treatment of osteoarthritis (OA). Mechanistically, SIRT3 directly binds and deacetylates COX4I2 to promote mitochondrial respiration activity.
Yijian Zhang, Yang Liu, Mingzhuang Hou, Xiaowei Xia, Junlin Liu, Yong Xu, Qin Shi, Zhongmin Zhang, Liang Wang, Yifan Shen, Huilin Yang, Fan He, Xuesong Zhu   +12 more
wiley   +1 more source

From mass to epidermolysis: a rare case of multiple metastatic solitary fibrous tumor with paraneoplastic pemphigus

, 2023
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 21, Issue 11, Page 1393-1395, November 2023.
Zijing Yang, Jingying Wang, Ruofei Shi, Qian Da, Xiaoqing Zhao, Jie Zheng, Meng Pan   +6 more
wiley   +1 more source

Clinical and genetic characteristics of primary hypertrophic osteoarthropathy

Нервно-мышечные болезни, 2023
Background. Primary hypertrophic osteoarthropathy is a rare genetically heterogeneous disease with three clinical variants. The classic one is a combination of hyperostosis, arthropathy and pachyderma and two variants with damage to only bone structures ...
E. L. Dadali, T. V. Markova, V. M. Kenis, T. S. Nagornova, S. S. Nikitin   +4 more
doaj   +1 more source

Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report

Journal of Medical Case Reports, 2012
Introduction Pachydermoperiostosis or primary hypertrophic osteoathropathy is a rare genetic disease with autosomal transmission. This disorder, which affects both bones and skin, is characterized by the association of dermatologic changes (pachydermia ...
Akrout Rim, Bendjemaa Samar, Fourati Héla, Ezzeddine Mariem, Hachicha Imene, Baklouti Soufiene   +5 more
doaj   +1 more source

PB2553: GENOTYPIC CHARACTERIZATION OF RARE INHERITED ANAEMIAS USING NEXT GENERATION SEQUENCING METHODS

, 2023
HemaSphere, Volume 7, Issue S3, August 2023.
Ganesh Kumar Viswanathan, Jasmita Dass, Rishi Dhawan, Mukul Aggarwal, Pradeep Kumar, Tulika Seth, Manoranjan Mahapatra   +6 more
wiley   +1 more source

Hypertrophic pulmonary osteoarthropathy due to lung cancer: A case report and literature review

Clinical Case Reports, 2020
Hypertrophic pulmonary osteoarthropathy (HPOA) is a rare paraneoplastic syndrome. Our literature review shows the location of arthralgia and existence of edema are referable information for the differential diagnosis in paraneoplastic arthralgia.
Akira Shinzato, Takeshi Kinjo, Taiga Miyagi, Shoshin Yamazato, Kozue Kaneku, Mao Nishiyama, Kazuya Miyagi, Makoto Furugen, Jiro Fujita   +8 more
doaj   +1 more source