Last update 08 May 2025

Ichthyosis Prematurity Syndrome

Basic Info

Synonyms
Congenital ichthyosis type 4, ICHTHYOSIS CONGENITA IV, ICHTHYOSIS PREMATURITY SYNDROME
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Introduction
A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene.

Analysis

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