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Cystic fibrosis presenting with periorificial dermatitis
1Department of Dermatology, Johns Hopkins Hospital, Baltimore, Maryland.
Insights
A baby boy’s worsening skin rash and failure to thrive were linked to cystic fibrosis. Prompt nutritional therapy improved his condition, suggesting malabsorption due to pancreatic dysfunction.
Area of Science:
- Pediatric Dermatology
- Gastroenterology
- Genetics
Background:
- Periorificial dermatitis can present in infants, sometimes associated with underlying metabolic or genetic conditions.
- Failure to thrive (FTT) in infants necessitates a thorough investigation into potential causes, including nutritional deficiencies and malabsorption.
- Cystic fibrosis (CF) is a genetic disorder that can manifest with gastrointestinal complications, including pancreatic exocrine dysfunction.
Observation:
- A 2-week-old infant presented with progressively worsening periorificial dermatitis and FTT.
- Laboratory findings revealed decreased serum zinc, proteins, and amino acids, alongside increased fecal fat.
- Markedly elevated sweat chloride levels were detected in the infant.
Findings:
- The infant's dermatitis showed a prompt positive response to nutritional therapy.
- The clinical presentation and laboratory results were consistent with malabsorption secondary to pancreatic exocrine dysfunction.
- Elevated sweat chloride levels are a hallmark diagnostic indicator for cystic fibrosis.
Implications:
- Periorificial dermatitis in infants, particularly when accompanied by FTT and malabsorption, should prompt consideration of cystic fibrosis.
- Early diagnosis and management of cystic fibrosis-related complications, such as pancreatic exocrine dysfunction, are crucial for improving infant outcomes.
- Nutritional therapy plays a vital role in managing malabsorption syndromes in infants, including those associated with cystic fibrosis.
Abstract:
A 2-week-old baby boy had a periorificial dermatitis that progressively worsened, as did his failure to thrive. Decreased serum zinc, proteins, and amino acids, as well as an increase in fecal fat, were noted. The child's dermatitis responded promptly to nutritional therapy. Sweat chloride levels were markedly elevated. The dermatitis, occasionally seen as a presenting feature of cystic fibrosis, is most likely the result of malabsorption caused by pancreatic exocrine dysfunction.