Diagnosis by Hair Sample: A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
July 2012
in “
American Journal of Clinical Pathology
”
TLDR Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
The document reported a case of a 15-month-old girl diagnosed with Netherton syndrome, characterized by dermatitis, eosinophilic esophagitis, and failure to thrive. Initially, she developed a sloughing eczematous rash that spread from the scalp to the body, and she experienced vomiting and diarrhea at 4 months, leading to growth issues. Laboratory tests showed selenium deficiency and increased IgE levels. A scalp biopsy revealed psoriasiform dermatitis, and hair analysis identified trichorrexis invaginata, confirming Netherton syndrome. The study highlighted the importance of considering Netherton syndrome in patients with atopic dermatitis symptoms, emphasizing hair examination for diagnosis.