[1] |
Noguera⁃Morel L, Feito⁃Rodríguez M, Maldonado⁃Cid P, et al. Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: expanding the genotype of self⁃healing Collodion baby[J]. Pediatr Dermatol, 2016,33(2):e48⁃e51. doi: 10.1111/pde.12740.
|
[2] |
Santesteban Muruzábal R, Larumbe Irurzun A, Yanguas Bayona I, et al. Self⁃healing Collodion baby: a new mutation in the ALOX12B gene[J]. Actas Dermosifiliogr, 2016,107(5):433⁃435. doi: 10.1016/j.ad.2015.10.014.
|
[3] |
Dereure O. PNPLA1 mutations in autosomal recessive congenital ichtyosis[J]. Ann Dermatol Venereol, 2017,144(11):736⁃737. doi: 10.1016/j.annder.2017.08.010.
|
[4] |
Esperón⁃Moldes U, Ginarte Val M, Rodríguez⁃Pazos L, et al. Novel and recurrent PNPLA1 mutations in Spanish patients with autosomal recessive congenital ichthyosis; evidence of a founder effect[J]. Acta Derm Venereol, 2019,99(10):894⁃898. doi: 10.2340/00015555⁃3227.
|
[5] |
杨舟, 徐哲, 马琳. 自我改善型火棉胶鱼鳞病三家系12R⁃脂氧合酶基因突变分析[J]. 中华皮肤科杂志, 2021,54(5):397⁃401. doi: 10.35541/cjd.20200891.
|
[6] |
Akiyama M. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis[J]. J Dermatol Sci, 2017,88(1):3⁃9. doi: 10.1016/j.jdermsci.2017.06. 002.
|
[7] |
常玉灵, 高金平, 张学军. 神经酰胺与特应性皮炎相关性研究进展[J]. 中华皮肤科杂志, 2018,51(1):79⁃80. doi: 10.3760/cma.j.issn.0412⁃4030.2018.01.027.
|
[8] |
Krieg P, Fürstenberger G. The role of lipoxygenases in epidermis[J]. Biochim Biophys Acta, 2014,1841(3):390⁃400. doi: 10.1016/ j.bbalip.2013.08.005.
|
[9] |
Epp N, Fürstenberger G, Müller K, et al. 12R⁃lipoxygenase deficiency disrupts epidermal barrier function[J]. J Cell Biol, 2007,177(1):173⁃182. doi: 10.1083/jcb.200612116.
|
[10] |
Moran JL, Qiu H, Turbe⁃Doan A, et al. A mouse mutation in the 12R⁃lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier[J]. J Invest Dermatol, 2007,127(8):1893⁃1897. doi: 10.1038/sj.jid.5700825.
|
[11] |
Vahlquist A, Fischer J, Törmä H. Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment[J]. 2018,19(1):51⁃66.
|