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The severe generalized subtype, associated with formation of pseudosyndactyly (a mitten-like deformity secondary to fusion of interdigital webbing) in early childhood, carries an SCC risk of up to 85% by age 45 years.[141,142] These cancers arise in nonhealing wounds and usually metastasize to cause death within 5 years of the diagnosis of SCC.[143] In one case series, SCC was the leading cause of death for the 15 patients with the severe generalized subtype.[144] The incidence of SCC appears to be highest in the RDEB subtype

Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder