Results 61 to 70 of about 2,068 (238)
Osteoporosis and Bone Diseases, 2023 Pachydermoperiostosis (primary hypertrophic osteoarthropathy) is an orphan disease, the main clinical manifestations of which include pin-shaped deformity of the fingers according to the type of «drumsticks», periostosis (non-inflammatory changes of the ...
T. M. Frolova +4 more
semanticscholar +1 more source
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 +6 more
doaj +1 more source
A Rare Cause of Refractory Anaemia hidden between Folds
, 2023 British Journal of Haematology, Volume 202, Issue 4, Page 712-712, August 2023.
Syna Hamani +3 more
wiley +1 more source
Pachydermoperiostosis mimicking acromegaly: A case report
Indian Dermatology Online Journal, 2018 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
5 Cases Analysis of Pachydermoperiostosis Complicated with Synovitis
罕见病研究, 2023 Objective To analyze the clinical characteristics, treatments and prognosis of pachydermoperiostosis (PDP) with synovitis, and to improve clinicians′ understanding of PDP. Methods The clinical data of 5 patients diagnosed with PDP in Peking Union Medical
LU Xin, YANG Bo, ZHANG Jianguo
doaj +1 more source
Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology [PDF]
, 2013 Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP
Bermúdez, Olga +10 more
core +2 more sources
Differential diagnosis of acromegaly and pachydermoperiostosis
Health and Ecology Issues, 2023 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
Reumatismo, 2014 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
Pachydermoperiostosis and bladder cancer [PDF]
Dermatology Online Journal, 2015 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 as a Rare Cause of Blepharoptosis
Türk Oftalmoloji Dergisi, 2014 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