Shwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis

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.

Keywords: Genodermatoses; genetics; ichthyosis.