Shwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis.

Autor: Jacinto-Calimag F; Department of Dermatology, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore., Wee LWY; Department of Dermatology, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore., Wen MYL; Department of Genetics, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore., Wei CHW; Department of Paediatrics, Gastroenterology, Hepatology and Nutrition Service, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore., Koh MJ; Department of Dermatology, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Nov 18. Date of Electronic Publication: 2024 Nov 18.
DOI: 10.1111/pde.15804
Abstrakt: 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.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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