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sebocystomatosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sebocystomatosis

MONDO:0008485

Also known as:Steatocystoma multiplexmultiple sebaceous cystsmultiplex steatocystoma

Overview

Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.

GeneticsAutosomal dominant · KRT17 (chr 17)

Clinical Presentation

Features include always present findings: Steatocystoma multiplex. 2 total HPO annotations.

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.

KRT17 encodes keratin 17 (432 aa). Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair. Highest expression in Skin Not Sun Exposed Suprapubic (904.7 TPM) and Skin Sun Exposed Lower leg (619.5 TPM).

Sebocystomatosis is associated with mutations in the KRT17 gene on chromosome 17.

The KRT17 protein participates in Mammary stem cell produces myoepithelial/basal progenitor, Embryonic ectoderm cell produces mammary stem cell, and Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell pathways.

KRT17 is classified as a druggable target with score 2.1.

Diagnosis

Genetic testing for KRT17 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 sebocystomatosis.

15 publications have been identified in PubMed for sebocystomatosis. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Other (7%).

Research Type	Count	% of Total
Patient case studies	9	60%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:184500

Orphanet

European rare disease database

Orphanet:841

GARD

Genetic and Rare Diseases Info Center

GARD:5003

Questions for Your Care Team

→Should I pursue genetic testing for KRT17, 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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sebocystomatosis

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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