[ family with Bart-Pumphrey syndrome]

ABSTRACT

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensorineural hearing loss [SNHL], palmoplantar keratoderma [PPK] and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in male and female and autosomal dominant pattern of inheritance