Inflammatory Granulomas, Accompanied by Mild Proliferation of Spinous Layer in Primary Hypertrophic Osteoarthropathy.

Autor: Huang Z; Department of Pediatrics, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277, Jiefang Avenue, Wuhan City, 430022, Hubei Province, China., Han J; Department of Pediatrics, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277, Jiefang Avenue, Wuhan City, 430022, Hubei Province, China., Qu P; Department of Pediatrics, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277, Jiefang Avenue, Wuhan City, 430022, Hubei Province, China., Zhou F; Department of Pediatrics, Wuhan Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277, Jiefang Avenue, Wuhan City, 430022, Hubei Province, China. daisy_may@163.com.

Publikováno v: Indian journal of pediatrics [Indian J Pediatr] 2024 Nov; Vol. 91 (11), pp. 1191. Date of Electronic Publication: 2024 Jun 14.

Clinical Outcomes of Utilizing a "W"-shaped Incision in the Management of Forehead Skin Thickening Induced by Hypertrophic Osteoarthropathy.

Autor: Guan Y; Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 JieFang Avenue, Wuhan, Hubei Province, People's Republic of China., Deng H; Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 JieFang Avenue, Wuhan, Hubei Province, People's Republic of China., Dong Q; Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 JieFang Avenue, Wuhan, Hubei Province, People's Republic of China., Wang J; Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 JieFang Avenue, Wuhan, Hubei Province, People's Republic of China. wangjiecong1982@sina.com.

Publikováno v: Aesthetic plastic surgery [Aesthetic Plast Surg] 2024 Jul; Vol. 48 (13), pp. 2375-2381. Date of Electronic Publication: 2024 May 21.

A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.

Autor: Dai Y; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., He M; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Xu H, Tan B; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Zhou W; Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China., Liu W; Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Wang Q; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Huang J; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Shang Q; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Liu Y; The State Key Laboratory for Complex, Severe, and Rare Diseases, The State Key Sci-tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, 100730, China. ypliu_pumc@163.com., Li Y; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China. liyue@pumch.ac.cn.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 11; Vol. 19 (1), pp. 229. Date of Electronic Publication: 2024 Jun 11.

Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Autor: Kimball TN; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Rivero-García P; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Barrera-Godínez A; Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Domínguez-Cherit J; Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63446. Date of Electronic Publication: 2023 Nov 01.

Lack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis.

Autor: Niizeki H; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan. Electronic address: niizeki-h@ncchd.go.jp., Tanaka R; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan., Nomura T; Department of Dermatology, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan., Seki A; Division of Orthopedics, National Center for Child Health and Development, Tokyo, Japan., Miyasaka M; Division of Radiology, National Center for Child Health and Development, Tokyo, Japan., Matsumoto Y; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan., Ishibashi M; Department of Dermatology, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan., Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan., Yoshida K; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan. Electronic address: yoshida-kz@ncchd.go.jp.

Publikováno v: Journal of dermatological science [J Dermatol Sci] 2024 May; Vol. 114 (2), pp. 86-88. Date of Electronic Publication: 2024 Mar 26.