Retinitis pigmentosa: a new feature in hypohidrotic ectodermal dysplasia.

Purpose Hypohidrotic ectodermal dysplasia is usually transmitted as an X-linked recessive trait. This is a really rare condition with a prevalence of 1 for 100 000 births. Patients present a classical triad of hypotrichosis, anhydrosis or hypohydrosis and dental abnormalities. We report a 16 year old boy presenting a mild phenotype of HED and a hemeralopia due to a retinitis pigmentosa, without dysmorphia, intellectual deficiency or other associated feature. The parents were not consanguineous and the family history was unremarkable. Methods A full field ERG according the ISCEV protocol, a goldmann visual field, color and autofluorescent fundu's photographies were recorded. Results The scotopic responses were diminished bilaterally confirming the existence of a retinitis pigmentosa. Conclusions We report a patient with the association of HED and retinitis pigmentosa, a previously unreported association that might represent a novel genetic syndrome. [ABSTRACT FROM AUTHOR]