Atypical Presentation of Cystic Fibrosis in An Infant

Bandya Sahoo1, Mukesh Kumar Jain1, Reshmi Mishra1

  • 1Department of Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India.

Insights

Dermatitis can be an early sign of cystic fibrosis (CF) in infants. Prompt diagnosis and treatment with nutritional and enzyme support can resolve the skin rash.

Area of Science:

  • Pediatrics
  • Dermatology
  • Genetics

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Skin manifestations are uncommon initial presentations of CF.
  • Acrodermatitis enteropathica is a differential diagnosis for infant dermatitis.

Observation:

  • A 2-month-old infant presented with failure to thrive, anemia, hypoproteinemia, and a perineal rash.
  • The rash initially resembled acrodermatitis enteropathica and temporarily improved with zinc supplementation.
  • Subsequent investigations confirmed a diagnosis of Cystic Fibrosis.

Findings:

  • Dermatitis can be an unusual but presenting sign of Cystic Fibrosis in neonates.
  • The skin eruption in this case was linked to the underlying CF.
  • Treatment involving nutritional support and pancreatic enzymes led to rash resolution.

Implications:

  • Highlights the importance of considering CF in infants with unexplained dermatitis, even without typical respiratory symptoms.
  • Suggests that early dermatological signs may prompt earlier diagnosis of CF.
  • Emphasizes the role of comprehensive workup for failure to thrive in infants.

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