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ichthyosis prematurity syndrome (IPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis prematurity syndrome

MONDO:0012089

Also known as:IPScongenital ichthyosis type 4idiopathic pneumonia syndrome

Overview

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.

GeneticsAutosomal recessive · SLC27A4 (chr 9)

OnsetCONGENITAL, ANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Polyhydramnios, Epidermal acanthosis, Neonatal asphyxia, and Caseous vernix-like desquamation and others; and sometimes findings: Asthma, Alopecia of scalp, Allergic rhinitis, and Food allergy. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Alopecia of scalp, Dermatographic urticaria, Hyperpigmentation of the skin

Genetic Landscape

SLC27A4 function has not been fully characterized.

Ichthyosis prematurity syndrome is associated with mutations in the SLC27A4 gene on chromosome 9.

Diagnosis

Genetic testing for SLC27A4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ichthyosis prematurity syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ichthyosis prematurity syndrome.

37 publications have been identified in PubMed for ichthyosis prematurity syndrome. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	11	30%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608649

Orphanet

European rare disease database

Orphanet:88621

GARD

Genetic and Rare Diseases Info Center

GARD:9886

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

ichthyosis prematurity syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ichthyosis prematurity syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications