Ichthyosis-prematurity syndrome

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Name:
Ichthyosis-prematurity syndrome
Description:
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.
ORPHAcode:
88621
Synonyms:
Congenital ichthyosis type 4
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14