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ichthyosis prematurity syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations.
Mondo Term and Equivalent IDs
MONDO:0012089:  ichthyosis prematurity syndrome
GARD:0009886: 
MESH:C536271: 
NCIT:C62590: 
Orphanet:88621: 
SCTID:12381000132107: 
UMLS:C1504431: 
UMLS:C1837610: