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reticulate acropigmentation of Kitamura (RAPK) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

reticulate acropigmentation of Kitamura

MONDO:0014234

Also known as:RAPKKitamura reticulate acropigmentationRAK

Overview

A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.

GeneticsAutosomal dominant · ADAM10 (chr 15)

Clinical Presentation

Features include always present findings: Thickened, rough skin (hyperkeratosis) and Macule.

Organ System	Phenotype Count	Example Features
Skin	1	Thickened, rough skin (hyperkeratosis)

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.

ADAM10 encodes ADAM metallopeptidase domain 10 (748 aa). Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins, including adhesion proteins, growth factor precursors and cytokines being essential for development and tissue homeostasis. Highest expression in Cells Cultured fibroblasts (36.5 TPM) and Nerve Tibial (25.6 TPM).

Reticulate acropigmentation of Kitamura is associated with mutations in the ADAM10 gene on chromosome 15.

ADAM10 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, Neutral Zinc Metallopeptidase, Protease, and Transporter categories) with score 3.3.

5 pathogenic variants reported in ADAM10 in ClinVar.

Diagnosis

Genetic testing for ADAM10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 reticulate acropigmentation of Kitamura.

28 publications have been identified in PubMed for reticulate acropigmentation of Kitamura. Research spans Case Report / Case Series (74%), Review / Meta-Analysis (22%), and Gene Therapy / Novel Therapeutics (4%).

Research Type	Count	% of Total
Patient case studies	20	74%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615537

Orphanet

European rare disease database

Orphanet:178307

GARD

Genetic and Rare Diseases Info Center

GARD:17079

Questions for Your Care Team

→Should I pursue genetic testing for ADAM10, 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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reticulate acropigmentation of Kitamura

Overview

Clinical Presentation

Explore clinical features

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

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