Naegli-Francesscheti-Jadassohn Syndrome
An Extremely Rare Form of Ectodermal Dysplasia Presenting After Teenage
DOI:
https://doi.org/10.66344/jpad.v32i1.1802Abstract
Naegli- Franceschetti – Jadassohn syndrome (NFJs) is an extremely rare autosomal dominant
form of ectodermal dysplasia that effects the skin, sweat glands, nails, and teeth. On exhaustive
literature search, we could find less than 50 cases of this disorder reported worldwide and only
one from Pakistan. To the best of our knowledge, we are reporting second case from our country
with all typical clinical features but quite late onset of presentation as against all other reported
cases. Majority of cases reported previously presented in childhood and subsequently improved
on 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 20
years and gradually progressed during last one and half year.
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