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Ichthyosis-prematurity syndrome

Disease definition

Ichthyosis 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.

ORPHA:88621

  • Synonym(s):
    • Congenital ichthyosis type 4
    • IPS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 608649
  • UMLS: C1837610
  • MeSH: C536271
  • GARD: 9886
  • MedDRA: -

Detailed information

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