Abstract
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis
bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout
childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing
demonstrated biallelic mutations in alpha6 integrin (ITGA6): p. Q139* and R153W. ITGA6
normally forms a protein heterodimer with beta4 integrin (ITGB4), and this dimer participates
in anchoring the basal skin cells to the extracellular matrix. Biallelic mutations
in each gene are well known to cause epidermolysis bullosa and pyloric atresia. However,
this child had ostensibly normal skin without any evidence of skin fragility. In a
literature search, we identified 11 cases involving ITGA6 mutations, and all had epidermolysis
skin changes. Thus, this case adds to the reported phenotype of ITGA6 disease since
it is the first to show absence of an epidermolysis bullosa phenotype in the setting
of pyloric atresia and nail dysplasia.
Keywords
ITGA6 - onycholysis - nail dysplasia
