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. 2025 Oct 31;18(10):e267502.
doi: 10.1136/bcr-2025-267502.

Preterm twin infant with Netherton syndrome

Dana Al-Ali  1 , Mohammed Al-Hor  2 , Mohammad A A Bayoumi  3 , Einas Elzubier Elmalik  4
Affiliations

Preterm twin infant with Netherton syndrome

Dana Al-Ali et al. BMJ Case Rep. .
No abstract available

Keywords: Dermatology; Neonatal and paediatric intensive care; Neonatal health; Neonatal intensive care; Paediatrics.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1. A photo of the case on admission to the neonatal intensive care unit shows marked desquamation of the hands and feet, consistent with early manifestations of Netherton syndrome.
Figure 2
Figure 2. A photo of the case on the day of discharge from the neonatal intensive care unit demonstrates improved skin integrity and response to supportive dermatological and nutritional management.
Figure 3
Figure 3. The diagram demonstrates how SPINK5 gene mutations result in LEKTI deficiency, leading to uncontrolled protease activity. This excessive activity degrades skin structural proteins, causing a breakdown of the skin barrier. The compromised barrier increases trans-epidermal water loss, triggers chronic inflammation and facilitates the penetration of allergens and pathogens. These processes contribute to dehydration, electrolyte imbalances and an atopic diathesis characterised by elevated IgE levels and allergic manifestations. LEKTI, lymphoepithelial Kazal-type-related inhibitor; SPINK5, serine protease inhibitor Kazal type-5.
See this image and copyright information in PMC

References

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