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diffuse leptomeningeal melanocytosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diffuse leptomeningeal melanocytosis

MONDO:0016745

Also known as:leptomeningeal melanomatosisDLM

Overview

Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.

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 diffuse leptomeningeal melanocytosis.

10 publications have been identified in PubMed for diffuse leptomeningeal melanocytosis. Research spans Case Report / Case Series (70%) and Review / Meta-Analysis (30%).

Research Type	Count	% of Total
Patient case studies	7	70%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:252031

GARD

Genetic and Rare Diseases Info Center

GARD:20739

Questions for Your Care Team

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diffuse leptomeningeal melanocytosis

Overview

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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