A patient with CHILD syndrome mimicking Hailey-Hailey disease: A diagnostic challenge.
case_report · Level V
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- Record sourced from PubMed, PMID 42575321.
- Also identified by DOI 10.1016/j.jaad.2026.08.020.
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Abstract
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome is a rare disorder in which atypical presentations may delay diagnosis. We report a molecularly confirmed case mimicking Hailey-Hailey disease without classical unilateral involvement or skeletal abnormalities. This case highlights an important diagnostic pitfall, emphasizes the value of NSDHL genetic testing, and demonstrates the clinical benefit of pathogenesis-directed topical simvastatin/cholesterol therapy.