AI Article Synopsis
- Netherton syndrome (NS) is a rare genetic disorder that presents with three main features: skin conditions, hair abnormalities, and allergic tendencies.
- The cases discussed involved patients with serious skin issues, frequent infections, and allergy-related problems, where microscopic hair examination showed specific hair defects.
- Genetic testing revealed harmful mutations in the SPINK5 gene, and better skincare and nutrition could enhance the patients' overall well-being.
Article Abstract
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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11259522 | PMC |
| http://dx.doi.org/10.7759/cureus.62718 | DOI Listing |
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