Netherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review
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 cond...
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| Veröffentlicht in: | Curēus (Palo Alto, CA) CA), 2024-06, Vol.16 (6), p.e62718 |
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| creator | Temboonnark, Panipak Daengsuwan, Tassalapa |
| description | 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. |
| doi_str_mv | 10.7759/cureus.62718 |
| format | Article |
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| identifier | ISSN: 2168-8184 |
| ispartof | Curēus (Palo Alto, CA), 2024-06, Vol.16 (6), p.e62718 |
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| source | PubMed Central Open Access; PubMed Central |
| subjects | Biopsy Dermatitis Ear diseases Hair Immunoglobulins Infections Lymphocytes Mutation Pneumonia Sepsis Skin care products Thymus gland |
| title | Netherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review |
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