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cafe au lait spots, multiple (NF6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cafe au lait spots, multiple

MONDO:0007245

Also known as:NF6autosomal dominant café au lait spotsfamilial cafe-au-lait spots

Overview

A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.

Diagnosis

Biomarker and diagnostic research for cafe au lait spots, multiple has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 cafe au lait spots, multiple.

31 publications have been identified in PubMed for cafe au lait spots, multiple. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (10%), and Basic Science / Preclinical (6%).

Research Type	Count	% of Total
Patient case studies	22	71%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 4:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:114030

Orphanet

European rare disease database

Orphanet:2678

GARD

Genetic and Rare Diseases Info Center

GARD:3967

Questions for Your Care Team

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cafe au lait spots, multiple

Overview

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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