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Related Experiment Video

Updated: Jun 7, 2025

Isolation of Neonatal Extrahepatic Cholangiocytes

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

Shwachman-Diamond Syndrome Presenting as Neonatal Ichthyosis.

Fatima Jacinto-Calimag¹, Lynette Wei Yi Wee¹, Mildrid Yeo Li Wen²

¹Department of Dermatology, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore.

Pediatric Dermatology

|November 18, 2024

Summary

Shwachman-Diamond syndrome (SDS) is a rare inherited disorder. Early ichthyosis and failure to thrive in infants may indicate SDS, alongside other symptoms.

Keywords:

Genodermatoses genetics ichthyosis

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Area of Science:

Genetics and rare diseases
Pediatric hematology
Dermatology

Background:

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure disorder.
It is defined by pancreatic exocrine dysfunction, cytopenia, and skeletal abnormalities.

Observation:

A 5-month-old boy with SDS presented with neonatal generalized ichthyosis.
This skin condition evolved into eczematous eruptions.
Severe failure to thrive was also noted.

Findings:

The case highlights ichthyosis as an early presenting sign of SDS.
Gastrointestinal symptoms and cytopenia are also key indicators.
SDS diagnosis should be considered in infants with these combined symptoms.

Implications:

Early recognition of SDS is crucial for timely intervention.
Considering SDS in the differential diagnosis for infants with ichthyosis and failure to thrive is important.
This case broadens the understanding of SDS initial presentations.