Netherton Syndrome: A Comprehensive Literature Review of Pathogenesis, Clinical Manifestations, and Therapeutic Strategies
Martyna Mocarska
Gabriel Narutowicz Municipal Specialist HospitalCracow, Poland
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, , Julia Dolinkiewicz
Independent Community Health Care Centre in GarwolinPoland
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, Anna Maria Maryńczak
Clinical Provincial Hospital No. 2 them. Saint Jadwiga the Queen in RzeszówSubcarpathia, Poland
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, , Katarzyna Strakowska
The Ludwik Rydygier Memorial Specialised HospitalCracow, Poland
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, and Sep 02, 2025
About this article
Article Category: Review
Published Online: Sep 02, 2025
Page range: 106 - 113
Received: May 29, 2025
Accepted: Aug 14, 2025
DOI: https://doi.org/10.34763/jmotherandchild.20252901.d-25-00014
Keywords
© 2025 Martyna Mocarska et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Figure 1.
Figure 2.
Differential diagnosis of Netherton syndrome_
| Inflammatory Dermatoses | Atopic dermatitis, deborrheic dermatitis, acrodermatitis enteropathica | Erythema, pruritus, eczematous or scaling lesions, onset in infancy | No trichorrhexis invaginata; transient course; response to topical therapy or zinc |
| Congenital Ichthyoses | ARCI, Ichthyosis vulgaris | Generalised scaling, skin barrier dysfunction | Absence of atopy and bamboo hair |
| Primary Immunodeficiency Disorders (PIDDs) | Hyper-IgE syndrome, (STAT3/DOCK8 deficicency); IPEX, Omenn, or Wiskott-Aldrich syndrome | Elevated IgE, eosinophilia, recurrent infections, eczema-like dermatitis | No LEKTI deficiency; systemic autoimmunity; hematologic anomalies (thrombocytopenia) |