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chilblain lupus 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chilblain lupus 2

MONDO:0013739

Also known as:Chilblain lupus type 2SAMHD1 chilblain lupuschilblain lupus caused by mutation in SAMHD1

Overview

Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.

GeneticsAutosomal dominant · SAMHD1 (chr 20)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include always present findings: Papillary dermal edema and Chilblains; and common findings: Cutaneous photosensitivity.

Organ System	Phenotype Count	Example Features
Skin	1	Cutaneous photosensitivity

Explore clinical features

Genetic Landscape

SAMHD1 function has not been fully characterized.

Chilblain lupus 2 is associated with mutations in the SAMHD1 gene on chromosome 20.

Diagnosis

Genetic testing for SAMHD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

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 chilblain lupus 2.

5 publications have been identified in PubMed for chilblain lupus 2. Research spans Case Report / Case Series (60%), Epidemiology / Natural History (20%), and Gene Therapy / Novel Therapeutics (20%).

Recent Publications

Han L (2026). [PMID: 41564501](https://pubmed.ncbi.nlm.nih.gov/41564501/). *Bioorg Med Chem*. [Gene Therapy / Novel Therapeutics]
Chauffier J (2026). [PMID: 41259063](https://pubmed.ncbi.nlm.nih.gov/41259063/). *JAMA Dermatol*. [Epidemiology / Natural History]
Israr Ul Haq M (2026). [PMID: 41822629](https://pubmed.ncbi.nlm.nih.gov/41822629/). *Cureus*. [Case Report / Case Series]
Emreol HE (2026). [PMID: 41496005](https://pubmed.ncbi.nlm.nih.gov/41496005/). *Rheumatology (Oxford)*. [Case Report / Case Series]
Lakhani P (2025). [PMID: 40160999](https://pubmed.ncbi.nlm.nih.gov/40160999/). *Rheumatol Adv Pract*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614415

GARD

Genetic and Rare Diseases Info Center

GARD:18494

Questions for Your Care Team

→Should I pursue genetic testing for SAMHD1, 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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chilblain lupus 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team