豪猪状鱼鳞病

A case of ichthyosis hystrix

报告1例豪猪状鱼鳞病。患儿男,13岁。全身丘疹7年余,无自觉症状。皮肤科检查:面颈部、躯干、四肢可见密集分布针尖至绿豆大的褐色、肤色乳头状丘疹,皮损间偶见正常皮肤。皮损组织病理检查:表皮角化过度,棘层肥厚,表皮突延长,基底层色素增加,真皮浅层少数炎性细胞浸润。外显子基因组测序提示FLG,HRNR等基因突变。诊断:豪猪状鱼鳞病。

A case of ichthyosis hystrix is reported. A 13-year-old boy presented with asymptomatic skin lesions on his face, trunk and extremities for 7 years. Physical examination showed hyperpigmented papillomatous papules on his face, trunk and ex- tremities. Normal skin between the lesions was seen Histopathology showed epidermal hyperplasia, acanthosis, marked elongation of rete ridges, basal hyperpigmentation and mild inflammatory infiltration in the superficial dermis. Exon gene sequencing found mu- tations of FLG and HRNR genes. The patient was diagnosed with ichthyosis hystrix.