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.
Original language | English (US) |
---|---|
Pages (from-to) | 166-171 |
Number of pages | 6 |
Journal | Pediatric Dermatology |
Volume | 34 |
Issue number | 2 |
DOIs | |
State | Published - Mar 1 2017 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Dermatology