Analysis of clinical characteristics and genetic variations in a case of self-improving collodion ichthyosis in the adult stage
- VernacularTitle:自我改善型火棉胶鱼鳞病1例成人阶段临床特征及基因变异分析
- Author:
Siming HU
1
;
Mengyao ZHANG
;
Weixia WANG
;
Jinghui SONG
;
Jianguo LI
;
Jianbo WANG
Author Information
- Publication Type:Journal Article
- Keywords: Ichthyosiform erythroderma, congenital; Autosomal recessive congenital ichthyosis; ALOX12B gene; Genetic variation
- From: Chinese Journal of Dermatology 2025;58(5):469-472
- CountryChina
- Language:Chinese
- Abstract: Objective:To investigate clinical characteristics and genetic variations in a case of self-improving collodion ichthyosis in the adult stage.Methods:An adult patient with clinically suspected self-improving collodion ichthyosis was collected from the Department of Dermatology, Henan Provincial People′s Hospital in April 2023. Clinical data were collected from the patient and her parents. Peripheral blood samples were obtained from them, and whole blood DNA was extracted. Whole-exome sequencing was performed to screen genetic variation sites, which were then verified by Sanger sequencing. The deleteriousness of the identified variants was assessed using pathogenicity analysis software.Results:The 54-year-old female patient presented with facial and neck flushing, mild dry skin on the trunk and limbs, sheepskin-like skin of the dorsal hand, and short fingers. Genetic testing identified two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) in the non-repetitive region of the ALOX12B gene in the patient, which were inherited from her father and mother respectively. Bioinformatics analysis revealed that both genetic variations were deleterious pathogenic mutations.Conclusions:Two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) were identified in the non-repetitive region of the ALOX12B gene in the patient with self-improving collodion ichthyosis, which may contribute to the clinical phenotype of the patient. The mutation c.769_801del had not been reported in literature.
