Results 91 to 100 of about 4,323,847 (152)

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

, 2009
Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis.
Sırmacı, Aslı, Ayten, Guelen Ece, Özdemir, Mustafa, Erdoğan, Yurdanur, Tekin, Mustafa, Yüksel-Konuk, Berrin, Sirmaci, Asli, Yılmaz-Turay, Ülkü, Ayten, Gülen Ece, Yilmaz-Turay, Uelkue, Aslan, İdil   +10 more
core   +1 more source

Hypertrophic osteoarthropathy presenting as rheumatoid arthritis mimicker: A case report

, 2020
Paraneoplastic rheumatologic syndromes are defined as clinical conditions that mimic primary rheumatic disease in the course of cancer; they generally improve with the effective treatment of underlying malignancy.
Ulutaş, Firdevs, Çobankara, Veli, Ulu, Meral, Karasu, Uğur   +3 more
core   +1 more source

Co-morbidity with hypertrophic osteoarthropathy: a possible Iron Age Sarmatian case from the Volga steppe of Russia

, 2019
PurposeHypertrophic osteoarthropathy (HOA) is a condition that can be inherited or acquired. It causes diffuse periosteal new bone formation on the long bones, with a predilection for the appendicular skeleton.
Moiseyev, Vyacheslav, Potrakhov, Nikolay, Zammit, Jean, Loyer, Jeanna, Ruppe, Mary, Murphy, Eileen; id_orcid, Rottier, Stephane, Khartanovich, Valery, Bessonov, Victor, Obodovskiy, Anatoliy   +9 more
core   +1 more source

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene

Orphanet Journal of Rare Diseases
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.
Qing Shang, Yimin Dai, Jingyi Huang, Wei Liu, Weixun Zhou, Yaping Liu, Hong Yang, Qiang Wang, Yue Li   +8 more
doaj   +1 more source

Hypertrophic osteoarthropathy in a child with biliary atresia.

, 2004
Hypertrophic osteoarthropathy is a syndrome characterized by clubbing of the digits of the hand/foot, periosteal reaction and arthralgia or arthritis which is usually secondary to cyanotic congenital heart disease and chronic pulmonary infections. This
Kansu Tanca, Aydan
core  

Supplementary Material for: Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

, 2019
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations.
Karabulut H.G. (6851148), Torgutalp M (6851143), Durmaz C.D (6851145), Seifert W. (6851149), Turgay M. (6851153), Akkaya Z. (6851152), Horn D. (6851151)   +6 more
core   +1 more source

Blepharoptosis and hypertrophic osteoarthropathy: A case report

, 2016
A 52-year-old male patient presented to our hospital with a history of secondary hypertrophic osteoarthropathy (HOA) associated with an abdominal neoplasia and blepharoptosis. He had finger clubbing, hyperhidrosis, and hypertrichosis.
Dikmetas, Ozlem, Gölge Acaroglu, ACAROGLU, Golge, DOGAN, Aysun Sanal, Ozlem Dikmetas, Aysun Sanal Dogan   +5 more
core   +1 more source

Biallelic SLCO2A1 variants in two siblings with primary hypertrophic osteoarthropathy and possible chronic enteropathy

Frontiers in Endocrinology
Background and aimsPathogenic variants in the SLCO2A1 gene are responsible for two rare monogenic disorders: primary hypertrophic osteoarthropathy (PHO) and chronic enteropathy (CEAS).
Tao Wang, Qian Zhang, Tingting Shi, Xin Chen, Li Wang, Xiuming Liu, Yihui Wang, Kaikai Shen, Fei Zhao, Litao Qin   +9 more
doaj   +1 more source

Myelofibrosis as a Presenting Manifestation of Primary Hypertrophic Osteoarthropathy

Indian Journal of Hematology and Blood Transfusion
A 23-year-old man presented with worsening fatigue, coarse facial features, digital clubbing, and splenomegaly. Laboratory tests revealed severe anemia and bone marrow fibrosis. Genetic analysis identified a pathogenic mutation in the SLCO2A1 gene, confirming a diagnosis of autosomal recessive primary hypertrophic osteoarthropathy type 2 (PHOAR2 ...
Gupta, Paras, Wadhera, Sarthak, Bhattacharya, Anish, Kaul, Namrata, Jain, Arihant, Ahluwalia, Jasmina, Malhotra, Pankaj   +6 more
openaire   +2 more sources

[Pachydermoperiostosis (primary hypertrophic osteoarthropathy)].

Medicina, 2006
Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare disease characterized by cutaneous and osteoarthicular involvement. We describe two patients with finger clubbing, watch crystal nails, bones thickenings, arthritis and different grades of skin affection, without other clinical manifestations. Both did not know of having relatives
Javier A, Cavallasca, Veronica A, Malah, Daniel E, Fernandez, Sergio G, Carbia, Gustavo G, Nasswetter   +4 more
openaire   +1 more source