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palmoplantar keratoderma-sclerodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

palmoplantar keratoderma-sclerodactyly syndrome

MONDO:0008416

Also known as:Huriez syndromeScleroatrophic syndromeSclerotylosis

Overview

GeneticsAutosomal dominant · SMARCAD1 (chr 4)

OnsetCONGENITAL

ResearchLimited published research (4 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 very common findings: Dry skin, Palmoplantar keratoderma, Abnormal nail morphology, and Aplasia/Hypoplasia of the skin and others; and sometimes findings: Squamous cell carcinoma of the skin. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	9	Small nail, Squamous cell carcinoma of the skin, Congenital palmoplantar hyperkeratosis

Genetic Landscape

SMARCAD1 function has not been fully characterized.

Palmoplantar keratoderma-sclerodactyly syndrome is associated with mutations in the SMARCAD1 gene on chromosome 4.

Diagnosis

Genetic testing for SMARCAD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 very 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 palmoplantar keratoderma-sclerodactyly syndrome.

4 publications have been identified in PubMed for palmoplantar keratoderma-sclerodactyly syndrome. Research spans Other (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Patrignani A (2025). [PMID: 39758213](https://pubmed.ncbi.nlm.nih.gov/39758213/). *JPRAS Open*. [Case Report / Case Series]
Singh S (2025). [PMID: 40709887](https://pubmed.ncbi.nlm.nih.gov/40709887/). *Indian Dermatol Online J*. [Other]
Pagnotta A (2025). [PMID: 40806836](https://pubmed.ncbi.nlm.nih.gov/40806836/). *J Clin Med*. [Review / Meta-Analysis]
Patrignani A (2024). [PMID: 39332636](https://pubmed.ncbi.nlm.nih.gov/39332636/). *Hand Surg Rehabil*. [Other]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:181600

Orphanet

European rare disease database

Orphanet:384

GARD

Genetic and Rare Diseases Info Center

GARD:8517

Questions for Your Care Team

→Should I pursue genetic testing for SMARCAD1, 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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palmoplantar keratoderma-sclerodactyly syndrome

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

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