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nevus comedonicus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nevus comedonicus syndrome

MONDO:0014873

Also known as:Nevus comedonicusacne Nevusacneiform Nevus

Overview

A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.

GeneticsMultifactorial · NEK9 (chr 14)

Clinical Presentation

Features include: Nevus comedonicus.

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.

NEK9 encodes NIMA related kinase 9 (979 aa). Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Highest expression in Ovary (75.5 TPM) and Fallopian Tube (70.1 TPM).

Nevus comedonicus syndrome is associated with mutations in the NEK9 gene on chromosome 14.

The NEK9 protein participates in p-3S,2T-NEK9: p-S206-NEK6/ p-S195-NEK7 pathway.

NEK9 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for NEK9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nevus comedonicus syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 nevus comedonicus syndrome.

17 publications have been identified in PubMed for nevus comedonicus syndrome. Research spans Case Report / Case Series (44%), Other (31%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	7	44%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617025

Orphanet

European rare disease database

Orphanet:64754

GARD

Genetic and Rare Diseases Info Center

GARD:13073

Questions for Your Care Team

→Should I pursue genetic testing for NEK9, and what would the results mean for my family?
→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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nevus comedonicus syndrome

Overview

Clinical Presentation

Explore clinical features

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

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