Below are the most recent publications written about "Skin Diseases, Genetic" by people in Profiles.
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Kirino Y, Maeda A, Asano T, Migita K, Hidaka Y, Ida H, Kobayashi D, Oda N, Rokutanda R, Fujieda Y, Atsumi T, Kishida D, Kobayashi H, Shiratsuchi M, Shimizu T, Kawakami A, Tanaka K, Tsuji T, Mishima K, Miyamae T, Hasegawa A, Ikeda K, Watanabe T, Yamaguchi Y, Nishikomori R, Ohara O, Nakajima H. Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry. Rheumatology (Oxford). 2025 Jun 01; 64(6):3872-3878.
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Miyagi Y, Kobayashi H, Umebayashi Y, Okimura A, Nakatsugawa M, Maeda A, Kirino Y, Aoki A. A Japanese case of VEXAS syndrome after COVID-19 vaccination: Comparison with previously reported cases. Mod Rheumatol Case Rep. 2025 Jan 16; 9(1):218-223.
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Ayub M, Kaminoff L, Maity A, Ali Z. Detailed primary localised cutaneous nodular amyloidosis clinical and pathological workup. BMJ Case Rep. 2024 Nov 12; 17(11).
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Tsuchida N, Uchiyama Y, Maeda A, Horita N, Kirino Y, Matsumoto N. Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply. Rheumatology (Oxford). 2024 08 01; 63(8):e229-e230.
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Guri-Lamce I, AlRokh Y, Kim Y, Maeshima R, Graham C, Hart SL, McGrath JA, Jack?w-Malinowska J. Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases? Br J Dermatol. 2024 04 17; 190(5):617-627.
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Fukuda N, Kanai D, Hoshino K, Fukuda Y, Morita R, Ishikawa Y, Kanaoka T, Toya Y, Kirino Y, Wakui H, Tamura K. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report. BMC Nephrol. 2024 01 11; 25(1):18.
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Miyoshi Y, Kise T, Morita K, Okada H, Imadome KI, Tsuchida N, Maeda A, Uchiyama Y, Kirino Y, Matsumoto N, Yokogawa N. Long-term remission of?VEXAS syndrome achieved by a single course of?CHOP therapy: A case report. Mod Rheumatol Case Rep. 2023 12 29; 8(1):199-204.
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Shah R, Truong T, Schwartz RA, Lambert MW, Parish LC, Janniger E, Lambert WC. Annular and acral/facial dyskeratotic paraneoplastic disorders. Clin Dermatol. 2023 May-Jun; 41(3):396-404.
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Kunimoto H, Miura A, Maeda A, Tsuchida N, Uchiyama Y, Kunishita Y, Nakajima Y, Takase-Minegishi K, Yoshimi R, Miyazaki T, Hagihara M, Yamazaki E, Kirino Y, Matsumoto N, Nakajima H. Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome. Int J Hematol. 2023 Oct; 118(4):494-502.
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Navarro-Navarro I, Jim?nez-Gallo D, de la Varga-Mart?nez R, Villegas-Romero I, Mora-L?pez F, Linares-Barrios M, Youssefian L, Vahidnezhad H, Uitto J. Novel splice mutation in CDSN gene causing type b peeling skin syndrome. J Eur Acad Dermatol Venereol. 2022 06; 36(6):e456-e460.