Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions

Figure 3

Segregation of the mutation 7120G > A: G2374R and its phenotypic features are shown in the pedigree of the family. The index patient (IV-1) and his grandmother (II-3) show blisters and nail dystrophy. His mother (III-4) presented with blisters solely in childhood and appears with nail dystrophy. All other family members carrying this mutation present with nail dystrophy without blisters.