Kilic Gurkan, Guler Nermin, Ones Ulker, Tamay Zeynep, Guzel Pinar
Department of Pediatrics, Division of Pediatric Allergy and Chest Diseases, Istanbul University, Istanbul Medical School, Istanbul, Turkey.
Eur J Pediatr. 2006 Sep;165(9):594-7. doi: 10.1007/s00431-006-0141-0. Epub 2006 May 3.
We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis with intractable skin manifestations and multiple food allergies. Netherton syndrome (NS) (OMIM 256500) was suspected due to very high serum IgE levels, growth retardation, severe food allergies and typical hair finding (trichorrhexis invaginata). A definite diagnosis was made by genetic analysis. Our cases are unique in being the first identical twins with NS diagnosed by a novel mutation in the SPINK5 gene. NS should be considered in differential diagnosis in children who have generalized erythema with intractable eczematous lesions and elevated levels of IgE.
我们报告了一对4岁同卵双胞胎姐妹的病例，她们患有严重的特应性皮炎，伴有难以治疗的皮肤表现和多种食物过敏。由于血清IgE水平极高、生长发育迟缓、严重食物过敏以及典型的毛发表现（套叠性脆发症），怀疑她们患有Netherton综合征（NS）（OMIM 256500）。通过基因分析做出了明确诊断。我们的病例很独特，是首例通过SPINK5基因新突变确诊为NS的同卵双胞胎。对于患有全身性红斑且伴有难以治疗的湿疹性病变以及IgE水平升高的儿童，鉴别诊断时应考虑NS。
