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Shwachman‐Diamond Syndrome Presenting as Neonatal Ichthyosis.

Authors :
Jacinto‐Calimag, Fatima
Wee, Lynette Wei Yi
Wen, Mildrid Yeo Li
Wei, Christopher Ho Wen
Koh, Mark Jean‐Aan
Source :
Pediatric Dermatology. Nov2024, p1. 4p. 3 Illustrations.
Publication Year :
2024

Abstract

ABSTRACT Shwachman‐Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome characterized by the triad of exocrine pancreatic dysfunction, cytopenia, and skeletal abnormalities. We report a 5‐month‐old boy with SDS who presented with generalized ichthyosis in the neonatal period that evolved into more eczematous skin eruptions, accompanied by severe failure to thrive. This report highlights the importance of including SDS as a differential diagnosis in patients who present with early ichthyosis, failure‐to‐thrive, gastrointestinal symptoms and cytopenia. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
07368046
Database :
Academic Search Index
Journal :
Pediatric Dermatology
Publication Type :
Academic Journal
Accession number :
180985012
Full Text :
https://doi.org/10.1111/pde.15804