Results 101 to 110 of about 4,325,288 (187)

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

SLCO2A1 gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy. [PDF]

J Orthop Translat, 2021
Umeno J, Matsumoto T, Fuyuno Y, Esaki M, Torisu T.   +4 more
europepmc   +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

Hypertrophic osteoarthropathy associated with lung cancer: A case report Akciǧer kanserine baǧli hipertrofik osteoartropati: Olgu sunumu

, 2007
Malignant neoplasms are sometimes associated with a variety of paraneoplastic rheumatic syndromes. Hypertrophic osteoarthropathy is one of these syndromes and the vast majority of cases are associated with intra thoracic neoplasms mainly broncogenic ...
Bayir-Angin, Gülden, Özen, ALAATTİN, Çiçin, Irfan, Saynak, Mert, Uzal, Cem, Koçak, Zafer, Coşar-Alas, Ruşen, Üregen, Burcu   +7 more
core  

A primary hypertrophic osteoarthropathy or pachydermoperiostosis.

Mymensingh medical journal : MMJ, 2012
A young boy of 17 years presented with arthalgia and arthritis of multiple joints unresponsive to treatment, generalized clubbing and enlargement of distal part of the extremities for 5 years and hyperhidrosis for 3 years. On examination, thickening of the facial skin and seborrhoea were found associated with acne.
M R, Bhuiyan, N F, Ali, A, Sultana, S, Salam, A K, Mahmud   +4 more
openaire   +1 more source

[Pachydermoperiostosis (primary hypertrophic osteoarthropathy)].

Anales de medicina interna (Madrid, Spain : 1984), 1991
A case of pachydermaperiostosis in a 16 year old male is presented. The main clinical features were bilateral mechanical gonalgia, acropachy, bilateral palpebral ptosis and hyperhydrosis. The diagnosis was confirmed by X-ray, showing a wide, symmetric periostosis. The literature is reviewed and the differential diagnosis is commented on.
N, Gómez Rodríguez, A, Atanes Sandoval, J, Graña Gil, B, Aspe de la Iglesia, J M, Souto Crespo, M L, Comesaña Castro   +5 more
openaire   +1 more source

Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing

, 2012
Digital clubbing is usually secondary to different acquired diseases. Primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disorder with variable digital clubbing as the most prominent feature, subperiosteal new bone formation, and ...
Tueysuez, Beyhan, SPECKER, Christof, BROUWERS, AD, HORN, Denise, SEIFERT, Wenke, KUEHNISCH, Jirko   +5 more
core   +1 more source