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pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

MONDO:0018657

Also known as:CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMACAPOK

Overview

GeneticsAutosomal recessive · SASH1 (chr 6)

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: Hypermelanotic macule, Alopecia, Squamous cell carcinoma, and Alopecia of scalp and others; and common findings: Hypomelanotic macule, Freckling, Premature loss of teeth, and Dry skin and others.

Organ System	Phenotype Count	Example Features
Skin	7	Alopecia, Alopecia of scalp, Dry skin

Genetic Landscape

SASH1 function has not been fully characterized.

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome is associated with mutations in the SASH1 gene on chromosome 6.

Diagnosis

Genetic testing for SASH1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 8 common 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 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome.

28 publications have been identified in PubMed for pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (36%), and Other (7%).

Research Type	Count	% of Total
Patient case studies	14	50%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618373

Orphanet

European rare disease database

Orphanet:447961

GARD

Genetic and Rare Diseases Info Center

GARD:17776

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

pigmentation defects-palmoplantar keratoderma-skin carcinoma 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

pigmentation defects-palmoplantar keratoderma-skin carcinoma 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