Serra-Guillén Carlos, Torrelo Antonio, Drake Marta, Armesto Susana, Fernández-Llaca Héctor, Zambrano Antonio
Servicio de Dermatología, Hospital Niño Jesús, Madrid, España.
Actas Dermosifiliogr. 2006 Jun;97(5):348-50. doi: 10.1016/s0001-7310(06)73417-2.
Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome.
Netherton综合征是一种罕见的常染色体隐性遗传疾病，由SPINK5基因突变引起。它的特征是鱼鳞病样皮肤病、毛干异常和免疫紊乱三联征。我们报告了一例12岁女孩，具有线状回旋性鱼鳞病、套叠性脆发症和特应性皮炎三联征，这是Netherton综合征的典型表现。
