A patient with CHILD syndrome mimicking Hailey-Hailey disease: A diagnostic challenge.

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.

Abstract from PubMed