title: Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.
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 COL7A 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.
authors.affiliation: Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Kendra D
authors.initials: KD
authors.lastname: Watson
authors.affiliation: Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Schoch
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
authors.forename: Geoffrey J
authors.initials: GJ
authors.lastname: Beek
authors.affiliation: Department of Dermatology, Mayo Clinic, Rochester, Minnesota.|Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.|Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Hand
mesh_terms: D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D024143:Collagen Type VII