Netherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review

被引：0
作者：
Temboonnark, Panipak [1 ,2 ]
Daengsuwan, Tassalapa [1 ,2 ]
机构：
[1] Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Div Allergy Immunol & Rheumatol, Bangkok, Thailand
[2] Rangsit Univ, Coll Med, Bangkok, Thailand
来源：
CUREUS JOURNAL OF MEDICAL SCIENCE | 2024年 / 16卷 / 06期
关键词：
atopic dermatitis; congenital ichthyosis; trichorrhexis invaginata; atopic diathesis; netherton syndrome; SKIN; EXPRESSION; MUTATIONS; SPINK5; LEKTI;
D O I：
10.7759/cureus.62718
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Netherton syndrome (NS) is a severe autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis. We report two cases that experienced severe congenital exfoliative dermatitis, recurrent infections, and allergic conditions. Examinations of hair under the light microscope revealed trichorrhexis invaginata. Whole exome sequencing identified homologous pathogenic mutations of SPINK5. Optimal skincare and proper nutritional support could improve patients' quality of life.
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