Results 21 to 30 of about 8,832 (185)

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   +3 more sources

Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations. [PDF]

Int J Biol Sci, 2022
Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease mainly affecting the skeletal and skin. Two genes involved in prostaglandin degradation are known to be responsible for PHO: HPGD and SLCO2A1.
Lu Q, Xu Y, Li S, Zhang Z, Sheng J, Zhang Z.   +5 more
europepmc   +4 more sources

BG10 A case of pachydermoperiostosis (primary hypertrophic osteoarthropathy) [PDF]

British Journal of Dermatology, 2023
We report a case of a 21-year-old man who was referred from the community with concern about persistent swollen and inflamed eyelids together with possible facial acne.
Luke Brindley, Manrup Hunjan, Helen M. Lewis, Marie‐Louise Lovgren, Hannah Titheradge   +4 more
openalex   +2 more sources

Atypical primary hypertrophic osteoarthropathy diagnosed with a novel SLCO2A1 gene mutation [PDF]

Imaging, 2023
Primary hypertrophic osteoarthropathy (HOA) is a rare condition with no identifiable cause, accounting for 3%–5% of all HOA cases. It is challenging to identify incomplete primary HOA, which can be misdiagnosed as other hypertrophic periostitis diseases.
Phạm Hoài Thu, Do-Thi Huyen Trang, Luu Canh Linh, Nguyễn Minh Đức   +3 more
openalex   +2 more sources

A rare helicobacter pylori infection-negative early gastric cancer in a young man with primary hypertrophic osteoarthropathy [PDF]

Endoscopy, 2022
Helicobacter pylori (Hp) infection-negative gastric cancer is very rare [1]. We describe a rare early gastric cancer in Hp infection-negative gastric mucosa in a youngman with primary hypertrophic osteoarthropathy, which is a rare monogenetic disease [2].
Zhixia Dong, Jie Xia, Xinjian Wan
openalex   +2 more sources

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for <i>SLCO2A1</i> variants. [PDF]

JBMR Plus
Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes are, respectively, designated as PHOAR1 and PHOAR2.
Arcanjo AM, de Souza AF, de Souza Quedas EP, de Menezes Correia-Deur JE, Ferreira DL, de Almeida Toledo SP, Lourenço DM.   +6 more
europepmc   +4 more sources

The Clinical Spectrum of Pachydermoperiostosis (Primary Hypertrophic Osteoarthropathy)

Medicine, 1991
The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy).
MATUCCI CERINIC, MARCO, LOTTI, TORELLO, Jajic I, MOGGI PIGNONE, ALBERTO, Bussani C, Cagnoni M.   +5 more
openaire   +6 more sources

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy [PDF]

Orphanet Journal of Rare Diseases
Background Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1 , which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheritance pattern.
Yimin Dai, Miao He, Hui Xu, Bei Tan, Weixun Zhou, Wei Liu, Qiang Wang, Jingyi Huang, Qing Shang, Yaping Liu, Yue Li   +10 more
openalex   +2 more sources

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

Journal of Clinical Endocrinology and Metabolism
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.
Qianqian Pang, Xuan Qi, Yue Chi, Ruizhi Jiajue, Li Zhang, Lijia Cui, Ou Wang, Mei Li, Xiaoping Xing, Yan Jiang, Yiyi Gong, Weibo Xia   +11 more
openalex   +2 more sources

Primary hypertrophic osteoarthropathy presenting as juvenile idiopathic arthritis: a case report

International Journal of Contemporary Pediatrics
Primary hypertrophic osteoarthropathy (PHO) is an inherited disorder, characterised by skin thickening of face and extremities, and periosteal proliferation of the long bones.
M. Samuel, Arul Rajamurugan Ponniah Subramanian, R. Subramanian, Ramesh Ramamoorthy   +3 more
openalex   +2 more sources