CARD14遺伝子多型を有する小児汎発性膿疱性乾癬

・小児汎発性膿疱性乾癬の3歳男児例を経験し，遺伝子解析によりCARD14（caspase recruitment domain-containing protein 14）遺伝子に疾患感受性多型が検出された．

・自験例はCARD14遺伝子多型を背景として発症したと考えられ，自己炎症性角化症のひとつであるCARD14関連乾癬に分類される．

・小児期発症の汎発性膿疱性乾癬においては，IL36RN遺伝子およびCARD14遺伝子の解析が早期診断に有用である．

・小児汎発性膿疱性乾癬に対する全身療法の選択肢はいまだ限られており，有効かつ安全に使用できる治療薬の開発が望まれる．

（「症例のポイント」より）

　

Infantile generalized pustular psoriasis associated with the p.Asp176His CARD14 variant

　

Takamuki, Risa1）Kanzaki, Mirei1）Sugiura, Kazumitsu2） 1）Department of Dermatology, Mito Saiseikai General Hospital 2）Department of Dermatology, Fujita Health University School of Medicine

　

A 3-year-old boy with a 3-week history of fever as well as rapid progression of multiple sterile pustules overlying erythematous lesions on his trunk and extremities was presented to our hospital. Histological examination revealed neutrophil infiltration into the upper epidermis that formed a spongiform pustule of Kogoj. He harbored a heterozygous variant, c.526G＞C （p.Asp176His）, in the CARD14 gene, resulting in the diagnosis of CARD14-related psoriasis. Despite having the same variant, his mother and grandfather were healthy. Genetic testing can be useful for the early diagnosis of generalized pustular psoriasis, particularly in children.