ネフローゼ症候群を伴った先天性魚鱗癬様紅皮症

・C1q腎症によるネフローゼ症候群を合併した先天性魚鱗癬様紅皮症の1例を経験した． ・adenosine triphosphate-binding cassette，subfamily A，member 12 （ABCA12）の遺伝子異常が判明しており，病態との関連が疑われている． （「症例のポイント」より）

Congenital ichthyosiform erythroderma with nephrotic syndrome

Nagano, Kana1）Kaneko, Sakae1）Oyama, Chigusa2）Sugiura, Kazumitsu3）Akiyama, Masashi4）Morita, Eishin1） 1）Department of Dermatology, Shimane University Faculty of Medicine 2）Department of Pediatrics, Shimane University Faculty of Medicine 3）Department of Dermatology, Fujita Health University Hospital 4）Department of Dermatology, Nagoya University Hospital

Abstract We report a 1-year-old boy presenting ichthyosis with systemic erythema since he was born. He had systemic edema and nephrotic syndrome just before 2-year-old. We performed renal biopsy and diagnosed C1q nephropathy. At the same time skin biopsy showed that marginal band was not clear. By the subsequent genetic screening, adenosine triphosphate-binding cassette, subfamily A, member 12 abnormality of the genes was detected. Based on the above, he was diagnosed as congenital ichthyosiform erythroderma. We treated the patient with oral prednisolone, oral cyclosporine and vaseline topical application. Both symptoms ware getting better. There was no reported case of congenital ichthyosiform erythroderma with C1q nephropathy, and it was reported as a rare disease case.