Pediatric Conditions for Which Skin Biopsies of Clinically Normal Skin Have Diagnostic Yield: A Review for the Pediatric Dermatologist

While skin biopsies are typically performed from lesional or pathologic skin, biopsies of non-lesional, healthy skin can be diagnostically valuable in certain pediatric conditions. This approach may offer a less invasive alternative to other diagnostic procedures, which is especially important in minimizing discomfort and risk in children. We evaluate the diagnostic utility of performing a biopsy of normal appearing, healthy skin in pediatric populations and provide guidance on disease-specific biopsy sites, specimen handling, and histopathologic analyses to consider in such evaluations. Conditions covered include rabies, systemic amyloidosis, lupus erythematosus, select neurologic, mitochondrial, and lysosomal storage disorders, and Alport syndrome. In considering whether a skin biopsy of normal appearing skin can be used as a potential diagnostic tool, dermatologists must also assess if their associated laboratory has the specific resources to process and interpret such specimens and consider whether collaboration with other specialists is warranted prior to biopsy.