Ichthyosis, petechiae, and arthrogryposis in a neonate

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Gaucher disease is a rare lysosomal storage disorder resulting from glucocerebrosidase deficiency.
• This deficiency causes toxic metabolite accumulation, affecting multiple organs.
• The perinatal-lethal subtype is exceptionally rare and diagnostically challenging.

Observation:

• A newborn female presented with ichthyosis, petechiae, and arthrogryposis.
• Genetic analysis revealed homozygosity for a pathogenic glucocerebrosidase gene variant.
• These clinical features are indicative of the severe perinatal-lethal form of Gaucher disease.

Findings:

• The case confirms a rare genetic variant causing Gaucher disease.
• The presented symptoms are consistent with the perinatal-lethal phenotype.
• Diagnostic challenges in rare genetic disorders are highlighted.

Implications:

• Dermatologists can play a key role in identifying potential Gaucher disease cases.
• Early diagnosis of rare genetic disorders improves patient outcomes.
• Further research into the clinical spectrum of Gaucher disease is warranted.