ichthyosis prematurity syndrome
Findings
No curated finding names ichthyosis prematurity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012089), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Caseous vernix-like desquamationHPOHP:0025724
- 23 of 23 reported patients
- Epidermal acanthosisHPOHP:0025092
- 10 of 10 reported patients
- ErythrodermaHPOHP:0001019
- 23 of 23 reported patients · Congenital onset
- Follicular hyperkeratosisHPOHP:0007502
- 23 of 23 reported patients
- Generalized ichthyosisHPOHP:0007503
- 23 of 23 reported patients
- Neonatal asphyxiaHPOHP:0012768
- 17 of 17 reported patients
- PolyhydramniosHPO
Show the remaining 7
- Neonatal respiratory distressHPOHP:0002643
- Very frequent (80% to 99% of cases)
- Allergic rhinitisHPOHP:0003193
- 6 of 23 reported patients
- AsthmaHPOHP:0002099
- 6 of 23 reported patients
- Food allergyHPOHP:0500093
- 6 of 23 reported patients
- Alopecia of scalpHPOHP:0002293
- 2 of 23 reported patients
- Dermatographic urticariaHPOHP:0011971
- Hyperpigmentation of the skin
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC27A4HGNC:10998
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: ichthyosis prematurity syndrome
- Also called
- congenital ichthyosis type 4idiopathic pneumonia syndromeIPS