Results 61 to 70 of about 1,595 (202)

A Rare Case: Touraine Solente Gole Syndrome

Haseki Tıp Bülteni, 2017
Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain.
Kamil Şahin, Nurcan Keskin Osmanoğlu, Hümeyra Öztürk Emre, Tarkan Kalkan, Murat Elevli   +4 more
doaj   +1 more source

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis. [PDF]

, 2017
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

Dor articular na osteoartropatia hipertrófica primária: descrição de caso e revisão de tratamento Arthralgia in primary hipertrophic osteoarthropathy: case report and review of the treatment

Revista Brasileira de Reumatologia, 2007
Apresentamos o caso de um paciente com baqueteamento digital e artrite que foi diagnosticado como tendo osteoartropatia hipertrófica primária. Essa é uma doença rara e benigna.
Aldo Lainetti, Fernanda Satake Novaes, Lívia Reis de Miranda, Sílvio Henriques de Lira   +3 more
doaj   +1 more source

Pachydermoperiostosis-Like Disease In Captive Red Ruffled Lemurs (Varecia Variegatus Rubra) [PDF]

, 2011
Pachydermatoperiostosis, a rare form of hypertrophic osteoarthropathy, is of unknown etiology and previously thought limited to humans. The only periosteal reaction previously reported in prosimians is related to renal disease.
Bruce Rothschild, Donald Neiffer, Steve Marks   +2 more
core   +1 more source

Pachydermoperiostosis complicated by recurrent hypokalemia: A rare case report

Romanian Journal of Rheumatology
Pachydermoperiostosis (PDP) is a genetic condition involving cutaneous and osseous tissues, characterized by pachydermia, digital clubbing, and periostosis. Though primarily associated with dermatological and osteoarticular symptoms, PDP has occasionally
Sarmini Varatharajan, N. Deepthi, A. Rangan, Saranya Chinnadurai   +3 more
semanticscholar   +1 more source

Features of the clinical course of pachydermoperiostosis with a verified mutation in the European type gene

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, O. Golounina, E. Mamedova, E. E. Litvinova, Z. Belaya   +4 more
semanticscholar   +1 more source

Диференційна діагностика гіпертрофічної остеоартропатії (огляд літератури та власне спостереження) [PDF]

, 2010
У статті узагальнено дані літератури щодо диференційної діа- гностики вторинної та первинної гіпертрофічної остеартропатії. Продемонстровано клінічний випадок запізнілої діагностики рідкісного варіанта гіпертрофічної остеоартропатії ...
Bushman, Svitlana Vasylivna, Butenko, Oleksandr Oleksiiovych, Duzhyi, Ihor Dmytrovych, Dytko, Vladyslava Volodymyrivna, Koroza, Sergey Alexandrovich, Plachkovskaya, Nadija Ivanivna, Prystupa, Liudmyla Nykodymivna, Savenko, Inesa Ivanivna, Shyshchuk, Volodymyr Dmytrovych, Zhdanov, Yaroslav Olehovich, Бутенко, Александр Алексееевич, Бутенко, Олександр Олексійович, Бушман, Светлана Васильевна, Бушман, Світлана Василівна, Дитко, Владислава Владимировна, Дитко, Владислава Володимирівна, Дужий, Игорь Дмитриевич, Дужий, Ігор Дмитрович, Жданов, Ярослав Олегович, Жданов, Ярослав Олегович, Короза, Сергей Александрович, Короза, Сергій Олександрович, Плачковская, Надежда Ивановна, Плачковська, Надія Іванівна, Приступа, Людмила Никодимовна, Приступа, Людмила Никодимівна, Савенко, Инесса Ивановна, Савенко, Інеса Іванівна, Шищук, Владимир Дмитриевич, Шищук, Володимир Дмитрович   +29 more
core  

Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome? [PDF]

, 2011
Ectopic liver is a very uncommon developmental anomaly that predisposes to the development of hepatocellular carcinoma. We describe the second documented case of a hepatocellular carcinoma developing in the primary liver of a patient with a rare and ...
Cathomas, Gieri, Dettmer, Matthias, Gandhi, Manoj, Itin, Peter, Miny, Peter, Willi, Niels   +5 more
core   +7 more sources

Sclerosing bone dysplasia from 16th century Sardinia (Italy): a possible case of Camurati-Engelmann disease [PDF]

, 2016
The skeletal remains of a male aged 45–55 years displaying several bone anomalies were unearthed from the Alghero (Sardinia) plague cemetery ‘lo Quarter’, a burial site dating back to the 1582–1583 AD outbreak.
BANDIERA P., BIANUCCI R, CARAMELLA, DAVIDE, FORNACIARI G, GIUFFRA, VALENTINA, MILANESE M, MONTELLA A, TOGNOTTI E   +7 more
core   +1 more source

Voriconazole induced periostitis [PDF]

, 2019
Case ...
Noordzij, Walter, Poort, Sharon, Rheenen, van, Ronald   +2 more
core   +4 more sources