Results 21 to 30 of about 10,313 (226)

Distinct features of three clinical subtypes in 533 patients with primary hypertrophic osteoarthropathy [PDF]

Orphanet Journal of Rare Diseases
Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder classified into clinical subtypes and genetic subtypes. Previous clinical studies have primarily focused on case reports and family analyses, largely characterizing the ...
Xilei Cai, Xiujuan Yang, Pengyue Zhang, Ziyue Dou, Zilian Chen, Chongzhi Zhu, Weiwei Xu, Xinchen Wang, Xiaodan Hong, Zhenhua Zhang   +9 more
doaj   +3 more sources

Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review [PDF]

BMC Pediatrics
Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder primarily characterized by digital clubbing, pachydermia, and periostitis. The rarity of this disease often leads to misdiagnosis or delayed diagnosis.
Jun Li, Shilei Jia, Jianqun Guo, Wenhui Xie, Yijiao Ma, Xiaojie Gao, Meihao Gao   +6 more
doaj   +3 more sources

Primary Hypertrophic Osteoarthropathy (Pachydermoperiostosis): Two Brothers Misdiagnosed As Inflammatory Arthritis [PDF]

Trends in Urology &Men's Health, Volume 16, Issue 4, August 2025.
Primary hypertrophic osteoarthropathy (Pachydermoperiostosis) is a rare, inherited genetic disorder of the skeleton and the skin, characterised by clubbing of the fingers, thickening of the skin especially of the face and forehead (pachydermia) and ...
Ahmed Abdulbari, Farooq Fouad, Syed Mushtaq, Ali Jawad   +3 more
semanticscholar   +3 more sources

Targeting Metabolomics in Primary Hypertrophic Osteoarthropathy: Uncovering Novel Insights into Disease Pathogenesis.

J Clin Endocrinol Metab
Context Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder characterized by skeletal and skin abnormalities. Genetic defects in prostaglandin E2 (PGE2) metabolism are known to cause PHO.
Pang Q, Qi X, Chi Y, Jiajue R, Zhang L, Cui L, Wang O, Li M, Xing X, Jiang Y, Gong Y, Xia W.   +11 more
europepmc   +3 more sources

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

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   +6 more sources

SLCO2A1 gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy [PDF]

Journal of Orthopaedic Translation, 2021
Junji Umeno, Takayuki Matsumoto, Yuta Fuyuno, Motohiro Esaki, Takehiro Torisu   +4 more
doaj   +3 more sources

Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family. [PDF]

Front Pediatr, 2023
Objective To perform molecular genetic analysis of a patient diagnosed with primary hypertrophic osteoarthropathy (PHO) with malnourishment, intussusception, and acro-osteolysis.
Liu Y, Wu Y, Tang H, Liu F, Wu Y, Wang S, Ding Y, Yin W.   +7 more
europepmc   +2 more sources

Comparison of bone microstructure and strength in the distal radius and tibia between the different types of primary hypertrophic osteoarthropathy: an HR-pQCT study. [PDF]

Osteoporos Int, 2023
Summary Primary hypertrophic osteoarthropathy (PHO) is a hereditary bone disease that is grouped into PHO autosomal recessive 1 (PHOAR1) and PHO autosomal recessive 2 (PHOAR2) due to different causative genes.
Pang Q, Xu Y, Liao R, Li Y, Zhang L, Chi Y, Qi X, Li M, Jiang Y, Wang O, Xing X, Qin L, Xia W.   +12 more
europepmc   +2 more sources

Incomplete primary hypertrophic osteoarthropathy. [PDF]

BMJ Case Rep, 2020
A 63-year-old man presented with chronic multiple joint pain and swelling. The symptoms had started in adolescence, progressed for about 10–15 years, and then became constant. There was no associated morning stiffness. Symptoms suggesting any chest or abdominal disease were absent.
Prasad A, Shahi P, Sehgal A, Bhagirathi Mallikarjunaswamy M.   +3 more
europepmc   +4 more sources

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy. [PDF]

Cold Spring Harb Mol Case Stud, 2023
Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES).
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX.   +4 more
europepmc   +2 more sources