[1] |
Schwartz RA. Acanthosis nigricans[J]. J Am Acad Dermatol, 1994,31(1):1⁃22. doi: 10.1016/s0190⁃9622(94)70128⁃8.
|
[2] |
Phiske MM. An approach to acanthosis nigricans[J]. Indian Dermatol Online J, 2014,5(3):239⁃249. doi: 10.4103/2229⁃5178. 137765.
|
[3] |
Berk DR, Spector EB, Bayliss SJ. Familial acanthosis nigricans due to K650T FGFR3 mutation[J]. Arch Dermatol, 2007,143(9):1153⁃1156. doi: 10.1001/archderm.143.9.1153.
|
[4] |
张龙江, 苏喆, 李湘蕾, 等. FGFR3基因K650T变异致家族性黑棘皮病并身材矮小[J]. 中华医学遗传学杂志, 2021,38(8):824⁃826. doi: 10.3760/cma.j.cn511374⁃20200730⁃00568.
|
[5] |
Fu J, Zhao Y, Wang T, et al. Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review[J]. BMC Med Genet, 2019,20(1):8. doi: 10.1186/s12881⁃019⁃0748⁃4.
|
[6] |
Hirai H, Hamada J, Hasegawa K, et al. Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3[J]. Clin Pediatr Endocrinol, 2017,26(4):223⁃228. doi: 10.1297/cpe.26.223.
|
[7] |
Ichiyama S, Funasaka Y, Otsuka Y, et al. Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation[J]. J Eur Acad Dermatol Venereol, 2016,30(3):442⁃445. doi: 10. 1111/jdv.13580.
|
[8] |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015,17(5):405⁃424. doi: 10.1038/gim.2015.30.
|
[9] |
华优, 任海燕, 宋秀祖. 黑棘皮病皮肤镜与反射式共聚焦显微镜特征分析[J]. 中华皮肤科杂志, 2021,54(2):148⁃150. doi: 10.35541/cjd.20200185.
|
[10] |
Scheinfeld N. Confluent and reticulated papillomatosis : a review of the literature[J]. Am J Clin Dermatol, 2006,7(5):305⁃313. doi: 10.2165/00128071⁃200607050⁃00004.
|
[11] |
Stephan C, Kurban M, Abbas O. Dowling⁃Degos disease: a review[J]. Int J Dermatol, 2021,60(8):944⁃950. doi: 10.1111/ijd. 15385.
|
[12] |
Dodds M, Maguiness S. Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans[J]. Pediatr Dermatol, 2019,36(4):554⁃555. doi: 10.1111/pde.13833.
|
[13] |
Lin WD, Tsai FJ, Wang CH. Mild osteochondrodysplasia with acanthosis nigricans in a short⁃statured Taiwanese family due to the p.Lys650Gln mutation in FGFR3[J]. Pediatr Neonatol, 2019,60(6):686⁃688. doi: 10.1016/j.pedneo.2019.09.008.
|
[14] |
Rymer K, Shiang R, Hsiung A, et al. Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: beyond crouzon syndrome and acanthosis nigricans[J]. Mol Genet Genomic Med, 2019,7(6):e656. doi: 10.1002/mgg3.656.
|
[15] |
Bellus GA, Spector EB, Speiser PW, et al. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype[J]. Am J Hum Genet, 2000,67(6):1411⁃1421. doi: 10.1086/316892.
|
[16] |
Fukuchi K, Tatsuno K, Matsushita K, et al. Familial acanthosis nigricans with p.K650T FGFR3 mutation[J]. J Dermatol, 2018,45(2):207⁃210. doi: 10.1111/1346⁃8138.14107.
|