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phakomatosis pigmentokeratotica - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

phakomatosis pigmentokeratotica

MONDO:0017317

Also known as:Phacomatosis pigmentokeratoticaorganoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies

Overview

Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.

ResearchLimited published research (9 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: Linear nevus sebaceous and Nevus spilus; and common findings: Sideways curvature of the spine (scoliosis). 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Excessive sweating (hyperhidrosis), Lymphedema, Patchy alopecia

Prognosis

Phenotype severity distribution: 2 very common features, 1 common feature.

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 phakomatosis pigmentokeratotica.

9 publications have been identified in PubMed for phakomatosis pigmentokeratotica. Research spans Review / Meta-Analysis (67%), Case Report / Case Series (22%), and Basic Science / Preclinical (11%).

Recent Publications

Forde KM (2026). [PMID: 40682439](https://pubmed.ncbi.nlm.nih.gov/40682439/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Ghawi OE (2026). [PMID: 42153462](https://pubmed.ncbi.nlm.nih.gov/42153462/). *J Child Neurol*. [Review / Meta-Analysis]
Baigrie D (2026). [PMID: 29494100](https://pubmed.ncbi.nlm.nih.gov/29494100/). *Unknown Journal*. [Case Report / Case Series]
Nicholson CL (2026). [PMID: 32644429](https://pubmed.ncbi.nlm.nih.gov/32644429/). *Unknown Journal*. [Review / Meta-Analysis]
Prasanna S (2026). [PMID: 41717942](https://pubmed.ncbi.nlm.nih.gov/41717942/). *Indian Dermatol Online J*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2874

GARD

Genetic and Rare Diseases Info Center

GARD:4311

Questions for Your Care Team

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phakomatosis pigmentokeratotica

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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