Compound Heterozygosity of Dominant and Recessive COL 7A COL COL 7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications

摘要

Abstract An 8‐year‐old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa ( DDEB ) presented with life‐threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL 7A mutations, one inherited from her DDEB ‐affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa ( EB ) in a family with milder, multigenerational autosomal dominant EB . Clinicians should recognize the clinical spectrum of dystrophic EB and recommend genetic consultation when the phenotype conflicts with family history.