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

Rare Disease

wooly hair-palmoplantar keratoderma syndrome

MONDO:0014492

Also known as:KWWH type IVkeratoderma with woolly hair type IVkeratoderma with wooly hair type IV

Overview

Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.

GeneticsAutosomal recessive · KANK2 (chr 19)

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: Sparse body hair, Sparse scalp hair, Sparse eyelashes, and Palmoplantar keratoderma and others; and sometimes findings: Woolly hair. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Palmoplantar keratoderma

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.

KANK2 encodes KN motif and ankyrin repeat domains 2 (851 aa). Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3. Highest expression in Uterus (425.3 TPM) and Colon Sigmoid (398.8 TPM).

Wooly hair-palmoplantar keratoderma syndrome is associated with mutations in the KANK2 gene on chromosome 19.

KANK2 is classified as a druggable target (Nuclear Hormone Receptor category) with score 0.0.

Diagnosis

Genetic testing for KANK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for wooly hair-palmoplantar keratoderma syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present 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 wooly hair-palmoplantar keratoderma syndrome.

101 publications have been identified in PubMed for wooly hair-palmoplantar keratoderma syndrome. Kisho has analyzed 79 by research type. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (33%), and Gene Therapy / Novel Therapeutics (9%).

Research Type	Count	% of Total
Laboratory research	34	43%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616099

Orphanet

European rare disease database

Orphanet:420686

GARD

Genetic and Rare Diseases Info Center

GARD:17697

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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wooly hair-palmoplantar keratoderma syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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