Ichthyosis prematurity syndrome
Ichthyosis prematurity syndrome
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.
Also known as congenital ichthyosis type 4, ichthyosis prematurity syndrome, idiopathic pneumonia syndrome, IPS — per MONDO
Also identified as
- MESH C536271 per MONDO
- NCIT C62590 per MONDO
- OMIM 608649 per MONDO
- Orphanet 88621 per MONDO
- SCTID 12381000132107 per MONDO
- UMLS C1837610 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Lungs | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Lungs | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Respiratory system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Respiratory system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |