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

Kendra D Watson; Jennifer J Schoch; Geoffrey J Beek; Jennifer L Hand

doi:10.1111/pde.13083

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

Pediatr Dermatol. 2017 Mar;34(2):166-171. doi: 10.1111/pde.13083.

Authors

Kendra D Watson¹, Jennifer J Schoch¹, Geoffrey J Beek², Jennifer L Hand^{1

2

3}

Affiliations

¹ Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
² Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
³ Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.

PMID: 28297147
DOI: 10.1111/pde.13083

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.

Publication types

Case Reports

MeSH terms

Child
Collagen Type VII / genetics*
Epidermolysis Bullosa Dystrophica / diagnosis*
Epidermolysis Bullosa Dystrophica / genetics*
Epidermolysis Bullosa Dystrophica / therapy
Female
Genetic Testing
Heterozygote
Humans
Mutation / genetics*
Pedigree

Substances

Collagen Type VII