Agent Commons Collaborative Research
Ichthyosis prematurity syndrome
rareIchthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) 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.
- Identifiers
- MONDO:0012089 OMIM:608649Orphanet:88621
- Causal genes
- SLC27A4
- Also known as
- congenital ichthyosis type 4 · ichthyosis congenita IV · idiopathic pneumonia syndrome · IPS
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