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Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Lichenification, Cutaneous amyloidosis, and Pruritus. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 3 | Dry skin, Scaling skin, Pruritus |
Age of onset: childhood.
OSMR encodes oncostatin M receptor (979 aa). Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events Highest expression in Cells Cultured fibroblasts (117.0 TPM) and Adipose Visceral Omentum (72.4 TPM).
Amyloidosis, primary localized cutaneous, 1 is associated with mutations in the OSMR gene on chromosome 5.
The OSMR protein participates in IL-6-type cytokine receptor ligand interactions and Interleukin-6 family signaling pathways.
OSMR is classified as a druggable target (External Side Of Plasma Membrane category) with score 52.2.
Genetic testing for OSMR is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for amyloidosis, primary localized cutaneous, 1 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 PHASE4, 1 NA. Research is primarily sponsored by academic and government institutions.
118 publications have been identified in PubMed for amyloidosis, primary localized cutaneous, 1. Kisho has analyzed 62 by research type. Research spans Epidemiology / Natural History (27%), Clinical Trial Publication (24%), and Case Report / Case Series (19%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 17 | 27% |
Clinical study results | 15 | 24% |
Patient case studies | 12 | 19% |
Research summaries | 7 | 11% |
Testing and diagnosis research | 5 | 8% |
Laboratory research | 5 | 8% |
New treatment approaches | 1 | 2% |
Weng HY (2026). [PMID: 42215407](https://pubmed.ncbi.nlm.nih.gov/42215407/). *J Formos Med Assoc*. [Epidemiology / Natural History]
Janodia R (2026). [PMID: 41528921](https://pubmed.ncbi.nlm.nih.gov/41528921/). *Dermatology (Basel, Switzerland)*. [Review / Meta-Analysis]
Liao X (2026). [PMID: 42180761](https://pubmed.ncbi.nlm.nih.gov/42180761/). *Front Med (Lausanne)*. [Case Report / Case Series]
Teng Y (2026). [PMID: 42029085](https://pubmed.ncbi.nlm.nih.gov/42029085/). *Int J Dermatol*. [Review / Meta-Analysis]
Deng F (2025). [PMID: 41397731](https://pubmed.ncbi.nlm.nih.gov/41397731/). *Zhongguo zhen jiu = Chinese acupuncture & moxibustion*. [Case Report / Case Series]
Zhang W (2025). [PMID: 41287646](https://pubmed.ncbi.nlm.nih.gov/41287646/). *Clinical, cosmetic and investigational dermatology*. [Case Report / Case Series]
Liu X (2025). [PMID: 40955599](https://pubmed.ncbi.nlm.nih.gov/40955599/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Case Report / Case Series]
Andersen NH (2025). [PMID: 41107742](https://pubmed.ncbi.nlm.nih.gov/41107742/). *BMC neurology*. [Case Report / Case Series]
Garrigue A (2025). [PMID: 39847438](https://pubmed.ncbi.nlm.nih.gov/39847438/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Soto-Canetti G (2025). [PMID: 40661111](https://pubmed.ncbi.nlm.nih.gov/40661111/). *JAAD case reports*. [Case Report / Case Series]
AI-curated news mentioning amyloidosis, primary localized cutaneous, 1
Updated Apr 24, 2026
A narrative review explores the roles of OSM and IL-31 in primary localized cutaneous amyloidosis, providing mechanistic insights that could inform future research and therapeutic strategies. This study contributes to the understanding of the disease's underlying biology.