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autosomal recessive palmoplantar keratoderma and congenital alopecia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive palmoplantar keratoderma and congenital alopecia

MONDO:0008923

Also known as:PPK-CA, Wallis typeautosomal recessive palmoplantar hyperkeratosis and congenital alopeciacataract-alopecia-sclerodactyly syndrome

Overview

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.

GeneticsAutosomal recessive

OnsetCONGENITAL

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 totalis, Facial erythema, Nail dysplasia, and Camptodactyly of finger and 8 more.

Organ System	Phenotype Count	Example Features
Skin	7	Alopecia totalis, Facial erythema, Nail dysplasia
Head and neck

Diagnosis

Biomarker and diagnostic research for autosomal recessive palmoplantar keratoderma and congenital alopecia has been reported in the published literature.

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 autosomal recessive palmoplantar keratoderma and congenital alopecia.

100 publications have been identified in PubMed for autosomal recessive palmoplantar keratoderma and congenital alopecia. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	60	71%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212360

Orphanet

European rare disease database

Orphanet:1366

GARD

Genetic and Rare Diseases Info Center

GARD:1139

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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autosomal recessive palmoplantar keratoderma and congenital alopecia

Overview

Clinical Presentation

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

autosomal recessive palmoplantar keratoderma and congenital alopecia

Overview

Clinical Presentation

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