Neonatal epidermolysis bullosa: lessons to learn about genetic counseling

Background Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). Methods We describe genetics of neonatal EB in Hong Kong. Results Two neonates of consanguineous Pakistani parents had the EB-Pyloric Atresia (EB-PA) variant. One had a 4 kb homozygous deletion of exon 19-25 of the ITGB4 gene, and the other with only a histopathological diagnosis. Both died of sepsis in infancy. Aberrant COL7A1 mutations in the dominant and recessive EB were described. Genetic analysis, together with histopathological classification is important to aid prognosis and counseling. JEB and EB-PA are associated with consanguinity and mortality during infancy. Morbidity and prognosis of the autosomal dominant DEB are optimistic. The autosomal recessive DEB is more severe, with neonatal onset and recurrent blistering. It is also associated with chronicity and malignant changes when the child reaches adulthood. Conclusion Exact genetic diagnosis aids in counseling of the family concerning the prognosis in the affected child and the risk of affected children in future pregnancies.

Automated summary

EB is a group of congenital blistering diseases with different categories, including EBS, JEB, and DEB. In Hong Kong, two neonates of consanguineous Pakistani parents had the EB-PA variant, one with a 4 kb homozygous deletion of the ITGB4 gene. Genetic analysis and histopathological classification are crucial for prognosis and counseling. JEB and EB-PA are linked to consanguinity and mortality in infancy, while autosomal dominant DEB has a favorable prognosis and autosomal recessive DEB is more severe with neonatal onset and recurrent blistering.