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dermatopathia pigmentosa reticularis (DPR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dermatopathia pigmentosa reticularis

MONDO:0007445

Also known as:DPR

Overview

GeneticsAutosomal dominant · KRT14 (chr 17)

ResearchLimited published research (3 articles)

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: Alopecia of scalp, Abnormal conjunctiva morphology, Adermatoglyphia, and Reticular hyperpigmentation and 4 more.

Organ System	Phenotype Count	Example Features
Skin	5	Alopecia of scalp, Reticular hyperpigmentation, Decreased sweating (hypohidrosis)

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.

KRT14 encodes keratin 14 (472 aa). The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filam... Highest expression in Skin Not Sun Exposed Suprapubic (8,477 TPM) and Skin Sun Exposed Lower leg (7,304 TPM).

Dermatopathia pigmentosa reticularis is associated with mutations in the KRT14 gene on chromosome 17.

The KRT14 protein participates in Mammary myoepithelial progenitor cell produces mature myoepithelial cell, Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis, and Mammary stem cell produces myoepithelial/basal progenitor pathways.

KRT14 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT14 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 dermatopathia pigmentosa reticularis.

3 publications have been identified in PubMed for dermatopathia pigmentosa reticularis. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Gao B (2025). [PMID: 40950988](https://pubmed.ncbi.nlm.nih.gov/40950988/). *Frontiers in medicine*. [Case Report / Case Series]
Shah HH (2025). [PMID: 40093016](https://pubmed.ncbi.nlm.nih.gov/40093016/). *Front Med (Lausanne)*. [Review / Meta-Analysis]
Le Q (2024). [PMID: 39106435](https://pubmed.ncbi.nlm.nih.gov/39106435/). *Clinical and experimental dermatology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125595

Orphanet

European rare disease database

Orphanet:86920

GARD

Genetic and Rare Diseases Info Center

GARD:8550

Questions for Your Care Team

→Should I pursue genetic testing for KRT14, 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?

← Back to All Diseases

Kisho

dermatopathia pigmentosa reticularis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Dermatopathia pigmentosa reticularis and overlap syndrome in siblings-A rare case report.

dermatopathia pigmentosa reticularis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Dermatopathia pigmentosa reticularis and overlap syndrome in siblings-A rare case report.