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Netherton Syndrome -- a therapeutic challenge in childhood
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  • Polina Kostova,
  • Guergana Petrova,
  • Martin Shahid,
  • Vera Papochieva,
  • Dimitrinka Miteva,
  • Ivelina Yordanova,
  • Kossara Drenovska,
  • Irena Bradinova,
  • Camila K. Janniger,
  • Robert A. Schwartz,
  • Snejina Vassileva
Polina Kostova
Medicinski universitet-Sofia
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Guergana Petrova
Medicinski universitet-Sofia
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Martin Shahid
Medicinski universitet-Sofia
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Vera Papochieva
Medicinski universitet-Sofia
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Dimitrinka Miteva
Medicinski universitet-Sofia
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Ivelina Yordanova
Medicinski universitet Pleven Fakultet medicina
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Kossara Drenovska
Medicinski universitet-Sofia
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Irena Bradinova
Medicinski universitet-Sofia
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Camila K. Janniger
Rutgers The State University of New Jersey
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Robert A. Schwartz
Rutgers The State University of New Jersey

Corresponding Author:[email protected]

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Snejina Vassileva
Medicinski universitet-Sofia
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Abstract

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune
31 Jan 2024Submitted to Clinical Case Reports
05 Feb 2024Submission Checks Completed
05 Feb 2024Assigned to Editor
05 Feb 2024Reviewer(s) Assigned
23 Feb 2024Review(s) Completed, Editorial Evaluation Pending
25 Feb 2024Editorial Decision: Revise Minor
15 Mar 20241st Revision Received
18 Mar 2024Review(s) Completed, Editorial Evaluation Pending
19 Mar 2024Editorial Decision: Accept