Naegli-Francesscheti-Jadassohn Syndrome

An Extremely Rare Form of Ectodermal Dysplasia Presenting After Teenage

Abstract

Naegli- Franceschetti – Jadassohn syndrome (NFJs) is an extremely rare autosomal dominantform of ectodermal dysplasia that effects the skin, sweat glands, nails, and teeth. On exhaustiveliterature search, we could find less than 50 cases of this disorder reported worldwide and onlyone from Pakistan. To the best of our knowledge, we are reporting second case from our countrywith all typical clinical features but quite late onset of presentation as against all other reportedcases. Majority of cases reported previously presented in childhood and subsequently improvedon puberty but in our case clinical features (reticulate skin hyperpigmentation, Keratoderma,hypohydrosis, anodontia, multiple hair and nail disorders) appeared quite late, at the age of 20years and gradually progressed during last one and half year.