Netherton综合征合并特应性皮炎：同一患者的两种新基因突变
Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.
作者信息
Moar Agata, Bruni Manfredo, Schena Donatella, Rigotti Erika, Colato Chiara, Novelli Antonio, Cesario Claudia, Girolomoni Giampiero
机构信息
Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.
Department of Surgical Sciences Dentistry, Gynecology and Pediatrics University of Verona Pediatric Clinic Verona Italy.
出版信息
Clin Case Rep. 2021 Nov 25;9(11):e05108. doi: 10.1002/ccr3.5108. eCollection 2021 Nov.
A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations.
一名儿童因上下肢出现红斑鳞屑性皮损2个月而引起我们的关注。组织学特征提示鱼鳞病样疾病，SPINK5和FLG2基因的伴随突变确诊为Netherton综合征，并伴有严重的特应性表现。
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