Early Esophageal Stricture in a 5-Year-Old with Recessive Dystrophic Epidermolysis Bullosa

A ৫-year-old girl with recessive dystrophic epidermolysis bullosa (RDEB) presented with progressive dysphagia. Barium swallow revealed a mid-esophageal stricture, upper endoscopy confirmed focal narrowing at 14 cm. This case represents one of the youngest reported esophageal strictures in RDE B, highlighting the need for early monitoring and intervention.

Use Cases

• Train models to predict esophageal stricture risk in RDE B patients based on clinical features like age, skin severity, and prior blistering history.
• Analyze imaging data (e.g., endoscopy videos) to segment stricture regions automatically.
• Generate synthetic patient records for rare disease simulation studies using this case as a template.

Strengths

• Rare pediatric case with confirmed genetic diagnosis (RDE B)
• Includes concrete clinical measurements (Hb 7.7 g/dL, stricture location 14 cm)
• Clear temporal progression (four months of symptoms)

Limitations

• Single case report limits statistical generalizability
• No raw patient data provided — only a summary PDF
• Unknown imaging resolution and endoscopic video quality

Provenance

Source

figshare institutional repository

Collection Method

Clinical case report uploaded by healthcare providers

Time Range

Single timestamp (2026)

Freshness

Last updated 2026-05-09 07:55 :35 suggests recent upload.

Geography

Not specified