Results 71 to 80 of about 808 (216)

A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment

open access: yes罕见病研究
A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening.
ZHANG Jie   +16 more
doaj   +1 more source

Combination csDMARD and Infliximab in Primary Hypertrophic Osteoarthropathy, a Case-Based Review

open access: yesVan Tıp Dergisi
An 18-year-old male patient presented with excessive sweating on the palms of the hands and soles of the feet. X-ray showed periostosis in the carpal and tarsal bones.
Burak Okyar   +2 more
doaj   +1 more source

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

open access: yes, 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

Primary Hypertrophic Osteoarthropathy: A case series [PDF]

open access: yes
Skeletal dysplasia encompasses a spectrum of over 400 rare inheritable skeletal abnormalities typically manifested early in childhood. Hypertrophic Osteoarthropathy is a clinical syndrome marked by abnormal skin and osseous tissue proliferation at the ...
BANSAL, PURNA   +4 more
core   +2 more sources

Hypertrophic pulmonary osteoarthropathy secondary to bronchial adenocarcinoma and coexisting pulmonary tuberculosis: a case report [PDF]

open access: yes, 2008
A 44-year-old man presented with painful swelling of wrists and ankles, severe pain at both tibiae, clubbing of fingers and toes and arthritis in wrist and ankle joints.
A Watanabe   +9 more
core   +2 more sources

Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis [PDF]

open access: yes, 2018
Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism.
Dan Wu   +8 more
core   +1 more source

소아청소년기에서 SLCO2A1 gene 연관 만성 장병증 (CEAS) 의 임상 양상 [PDF]

open access: yes, 2022
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  

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