日本新生児成育医学会雑誌 33(3):574-579;2021 印刷する
日本新生児成育医学会雑誌 第33巻 第3号 98 ~ 103頁(2021年)
受付日:2020.11.02
受理日:2021.03.23
体重増加不良,繰り返す炎症反応上昇を認めたNetherton 症候群の1 例
Netherton Syndrome with Failure to Thrive and Repeated Episodes of Elevated Inflammatory Markers
京都第一赤十字病院 新生児科
Department of Neonatology, Japanese Red Cross, Kyoto Daiichi Hospital
太田幹人・木下大介・西村 陽
Mikito OTA,Daisuke KINOSHITA,Akira NISHIMURA
Key Words:Netherton syndrome,elevated inflammatory markers,failure to thrive,bamboo hair,SPINK5
在胎36 週,2,144g で出生した児。出生時より全身に皮膚剥離所見を認めたが,皮膚生検では確定診断に至らな かった。哺乳力良好にもかかわらず体重増加不良を認めた。日齢18,33 に発熱を伴わない炎症反応上昇のエピソー ドを反復したが,いずれも抗菌薬投与と無関係に軽快した。血液検査で好酸球増多・IgE 高値を認め,自己炎症性 疾患やOmenn 症候群等の重症複合型免疫不全症の可能性を疑い,日齢45 に転院した。転院後の精査では重症複合 型免疫不全症の可能性は否定的であったが,毛髪の光学顕微鏡検査でbamboo hair の所見を認めた。次世代シーク エンサーを用いた遺伝子パネル検査ではSPINK5 の片アリルに既知のナンセンス変異を認めるのみであったが,毛 髪の特徴的な所見を考慮してNetherton 症候群と診断した。
魚鱗癬様の皮膚所見にIgE 高値,免疫異常を疑う症例ではNetherton 症候群を鑑別に挙げるべきである。
We report a male patient who presented with peeling skin at birth and subsequent generalized erythroderma and desquamation. He was born at 36 gestational weeks with a birth weight of 2,144 g. We could not confirm the diagnosis by skin biopsy, and he presented with failure to thrive despite adequate oral intake above 100 kcal/kg per day. Also, he had repeated episodes of elevated inflammatory markers such as CRP on days 18 and 33 and serum IgE level was high for his age. We therefore suspected autoinflammatory disorder or primary immunodeficiency and transferred him to another hospital on day 45. Immunological screening tests were not indicative of combined immunodeficiency such as Omenn syndrome. Light microscopic examination of scalp hair revealed a characteristic feature, trichorrhexis invaginate, also known as “bamboo hair.” Next-generation sequencing (NGS) -based multigene-targeted panel for primary immunodeficiencies identified a heterozygous nonsense mutation of SPINK5 (serin protease inhibitor, Kazal type-5). Based on these results, the patient was finally diagnosed with Netherton syndrome. In summary, when a baby presents with ichthyosiform dermatosis, elevated serum IgE levels, and other clinical symptoms indicative of immunodeficiency, we should consider Netherton syndrome as the primary diagnosis.
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