Results 61 to 70 of about 2,048 (238)
Pachydermoperiostosis mimicking acromegaly: A case report
Pachydermoperiostosis is a rare, hereditary disease commonly presenting with digital clubbing, pachyderma, and periosteal hypertrophy. Coarsening of facial features and spade-like enlargement of hands and feet may give rise to a diagnostic dilemma ...
Prerna+3 more
doaj +1 more source
Differential diagnosis of acromegaly and pachydermoperiostosis
Acromegaly is a neuroendocrine disease with diverse clinical manifestations that develop over a long period. In the process of examining a patient, it may be necessary to conduct a differential diagnosis of acromegaly with various syndromes and ...
N. V. Kholupko+4 more
semanticscholar +1 more source
Pachydermoperiostosis and bladder cancer [PDF]
Pachydermoperiostosis or the Touraine-Soulente-Gole syndrome is a rare monogenetic disorder characterized by pachydermia, periostosis and digital clubbing accounts for approximately 3∼5% of all patients with hypertrophic osteoarthropathy. Missense mutations in SLCO2A1 and HPGD genes could plausibly underlie the pathogenesis of pachydermoperiostosis ...
Famularo, Guiseppe+2 more
openaire +5 more sources
Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing)
S. El Aoud+4 more
doaj +1 more source
Idiopathic hypertrophic osteoarthropathy misdiagnosed as juvenile idiopathic arthritis. Case study [PDF]
Background. Pachydermoperiostosis (or primary hypertrophic osteoarthropathy) is a rare genetic disease that usually begins in childhood or adolescence, is characterized by certain clinical signs (pachydermia, periostosis, drum sticks) that gradually ...
Agachi, Svetlana+4 more
core +1 more source
Pachydermoperiostosis as a Rare Cause of Blepharoptosis
A 37-year-old male patient diagnosed with pachydermoperiostosis at another center came to our clinic to rectify his blepharoptosis. The physical examination of the patient revealed skeleton and skin symptoms typical for pachydermoperiostosis.
Özlem Yalçın Tök+5 more
doaj +1 more source
Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis. [PDF]
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed.
이유미
core +1 more source
Clinicopathologic Conference: A Four‐Year‐Old Child With Digital Clubbing
Arthritis Care &Research, Volume 73, Issue 10, Page 1379-1386, October 2021.
Katherine Schultz+6 more
wiley +1 more source
Elephant skin and droopy lids: A rare case report of touraine-solente-gole syndrome
Touraine-Solente-Gole syndrome which is also known as pachydermoperiostosis is a multisystem disorder that affects bone, skin including eyelids, gastrointestinal system, and endocrine system.
Rita Hepsi Rani+2 more
doaj +1 more source
소아청소년기에서 SLCO2A1 gene 연관 만성 장병증 (CEAS) 의 임상 양상 [PDF]
학위논문(석사) -- 서울대학교대학원 : 의과대학 임상의과학과, 2022.2. 고재성.Background and Aims: The incidence of inflammatory bowel disease (IBD) is increasing worldwide, and many atypical IBDs are being discovered.
임진규
core