Results 81 to 90 of about 8,832 (185)

A Case Report of Primary Hypertrophic Osteoarthropathy

罕见病研究
Primary hypertrophic osteoarthropathy(PHO) is a rare disease also known as pachydermoperiostosis. We reported a painless case whose diagnosis was confirmed by genetic test. A 24-year-old male presented a series of symptoms that first began at 14.
ZHAO Zongxuan, SUN Liying, CHEN Jia, WANG Yanyuan, CHEN Dan, ZUO Qingyao, DENG Wei, TIAN Wen   +7 more
doaj   +1 more source

Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts

Molecular Genetics &Genomic Medicine, Volume 12, Issue 2, February 2024.
Abstract Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations.
Maria Helena Vaisbich, Antônio César Paulillo de Cillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino de Carvalho, Juliana M. C. M. de Almeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. da Silva, Paula Frassinetti V. de Medeiros, Pedro Henrique Mendes   +10 more
wiley   +1 more source

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing

Pediatric Rheumatology Online Journal, 2023
Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute ...
Rafaela Nicolau, Tiago Beirão, Francisca Guimarães, Francisca Aguiar, Sara Ganhão, Mariana Rodrigues, Ana Grangeia, Iva Brito   +7 more
doaj   +1 more source

Rheumatic manifestations associated with lung diseases [PDF]

Einstein (São Paulo), 2008
Rheumatic manifestations in the more prevalent lung diseasessuch as asthma, chronic pulmonary disease or pneumonia are notfrequent. Exceptions to this rule are represented by lung cancerand sarcoidosis, where the appearance of the digital clubbing ...
Marco Aurelio Scarpinella Bueno, Hélio Romaldini   +1 more
doaj  

Radiological changes of short and flat bones in primary hypertrophic osteoarthropathy [PDF]

Annals of the Rheumatic Diseases, 1998
Hypertrophic osteoarthropathy (HO) is defined as a syndrome characterised by finger clubbing and periostosis of long bones.1 It is classified into primary (PHO) and secondary hypertrophic osteoarthropathy (SHO). To establish the HO diagnosis, finger clubbing and periostosis of long bones must be present.
Ivo Jajić, Zrinka Jajić
openaire   +3 more sources

Osteoartropatia hipertrófica idiopática: relato de caso e revisão da literatura Primary hypertrophic osteoarthropathy: case report and literature review

Revista Brasileira de Reumatologia, 2009
A osteoartropatia hipertrófica primária é uma síndrome rara, caracterizada pela presença de baqueteamento digital de mãos e pés, aumento das extremidades e de tecidos periarticulares secundários à proliferação óssea, fisionomia facial grosseira, dor e ...
Aline Biral Zanon, Mellysande Pontes Faccin, Sônia Maria Alvarenga Anti, Felipe José Silva Melo Cruz, Renata Ferreira Rosa   +4 more
doaj   +1 more source

Paraneoplastic arthritis — at the crossroads of rheumatology and oncology

Bolʹ, Sustavy, Pozvonočnik, 2022
Paraneoplastic arthritides (PA) are a group of inflammatory arthropathies associated with latent or manifest malignancy, localized in a distant site in relation to the primary focus and caused by immune-mediated mechanisms.
Ye.D. Yehudina, S.А. Trypilka
doaj   +1 more source

Acetaminophen as a possible safer alternative for reducing prostaglandin E2‐major urinary metabolites concentrations and alleviating joint pain in pachydermoperiostosis

JEADV Clinical Practice, Volume 4, Issue 1, Page 277-280, March 2025.
Tomoya Takegami, Takashi Nomura, Satoru Yonekura, Akiyoshi Senda, Kazue Yoshida, Atsuhito Seki, Kazuhiko Nakabayashi, Tadakazu Hisamatsu, Hiroki Kitamoto, Shuji Yamamoto, Yusuke Honzawa, Hiroshi Seno, Hironori Niizeki, Kenji Kabashima   +13 more
wiley   +1 more source

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene. [PDF]

Orphanet J Rare Dis
Background and aims Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patients.
Shang Q, Dai Y, Huang J, Liu W, Zhou W, Liu Y, Yang H, Wang Q, Li Y.   +8 more
europepmc   +2 more sources

Pachydermoperiostosis (Touraine–Solente–Gole syndrome): a case report

Journal of Medical Case Reports, 2019
Background Pachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis).
Amir Joshi, Gaurav Nepal, Yow Ka Shing, Hari Prasad Panthi, Suman Baral   +4 more
doaj   +1 more source