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focal facial dermal dysplasia type IV - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal facial dermal dysplasia type IV

MONDO:0013997

Also known as:FFDD type IVFFDD4focal Facial dermal dysplasia type 4

Overview

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

GeneticsAutosomal recessive · CYP26C1 (chr 10)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Bitemporal forceps marks.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CYP26C1 encodes cytochrome P450 family 26 subfamily C member 1 (522 aa). A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals. Highest expression in Testis (0.8 TPM) and Spleen (0.2 TPM).

Focal facial dermal dysplasia type IV is associated with mutations in the CYP26C1 gene on chromosome 10.

The CYP26C1 protein participates in CYP26C1 Q284Hfs*129, CYP26C1 4-hydroxylates 9cRA, and Defective CYP26C1 does not 4-hydroxylate 9cRA pathways.

CYP26C1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 10.4.

Diagnosis

Genetic testing for CYP26C1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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 focal facial dermal dysplasia type IV.

2 publications have been identified in PubMed for focal facial dermal dysplasia type IV. Research spans Case Report / Case Series (100%).

Recent Publications

Beyens A (2025). [PMID: 39828664](https://pubmed.ncbi.nlm.nih.gov/39828664/). *Clinical genetics*. [Case Report / Case Series]
Gnesotto L (2025). [PMID: 40231353](https://pubmed.ncbi.nlm.nih.gov/40231353/). *Dermatology reports*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614974

Orphanet

European rare disease database

Orphanet:398189

GARD

Genetic and Rare Diseases Info Center

GARD:17650

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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focal facial dermal dysplasia type IV

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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