How can the itching associated with OSMR‑related PLCA be managed effectively?

First‑line options include high‑potency topical steroids or calcineurin inhibitors; antihistamines may help nocturnal itch, and newer agents such as dupilumab (IL‑4Rα blocker) or nemolizumab (IL‑31 receptor antagonist) have shown benefit in refractory cases.

Is the OSMR mutation inherited, and should my family members be screened?

Most OSMR mutations causing PLCA are autosomal‑dominant with variable penetrance; first‑degree relatives may consider genetic counseling and testing, especially if they have similar pruritic skin changes.

My dermatologist diagnosed me with primary localized cutaneous amyloidosis (PLCA). Is genetic testing for OSMR mutations useful for my care?

Testing can identify a causative OSMR variant, confirming a hereditary form of PLCA, informing family counseling, and may influence future targeted therapies, but it does not change current symptomatic treatment.

What are the typical skin findings and symptoms that suggest OSMR‑related PLCA?

Patients usually develop persistent, intensely itchy hyperpigmented macules or papules, often on the shins, forearms, or trunk; over time, small amyloid deposits can be seen on skin biopsy as amorphous eosinophilic material.

OSMR Gene

The OSMR gene encodes a receptor subunit that mediates signaling for oncostatin M and interleukin‑31, and mutations in this gene are linked to primary localized cutaneous amyloidosis.

Normal Function

The OSMR gene provides instructions for making a protein called oncostatin M receptor beta subunit (OSMRβ). This protein is one piece (subunit) of both the oncostatin M (OSM) receptor type II and the interleukin‑31 (IL‑31) receptor. These receptors are embedded in the cell membrane of many types of cells throughout the body. Each attaches to a particular protein, fitting together like a lock and its key. This attachment triggers a series of chemical signals inside the cell that directs certain cell functions.

OSM receptor type II interacts with a protein called oncostatin M (OSM). Signaling triggered by OSM was first recognized to block the growth of cancerous cells and appears to play a role in many other body processes, including the development of blood cells, the maturation of cells to become certain cell types, and an immune system response called inflammation. The signaling may also block the self‑destruction (apoptosis) of cells.

The IL‑31 receptor interacts with a protein called IL‑31. Signaling triggered by IL‑31 is involved in inflammation and stimulating itching (pruritus), although its role is not completely understood.

Health Conditions Related to Genetic Changes

Primary localized cutaneous amyloidosis

At least 13 mutations in the OSMR gene have been found to cause primary localized cutaneous amyloidosis (PLCA) type 1, an itchy skin condition in which clumps of abnormal proteins called amyloids build up in the skin. These mutations change single protein building blocks (amino acids) in OSMRβ. Most alter a region of the protein thought to interact with the other subunit of the OSM receptor type II or the IL‑31 receptor and may impair formation of these receptors.

OSMR gene mutations reduce the chemical signals triggered by OSM and IL‑31. Researchers speculate that this reduced signaling may make cells more likely to undergo apoptosis. Some studies suggest that apoptosis of skin cells releases abnormal proteins that form amyloids. It has been suggested that apoptosis is triggered by scratching the itchy skin, but the role of OSMR gene changes in skin itching is not clear.

Other Names for This Gene

IL‑31 receptor subunit beta
IL‑31R subunit beta
IL‑31R‑beta
IL‑31RB
interleukin‑31 receptor subunit beta
oncostatin‑M specific receptor beta subunit
OSMRB
PLCA1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Tests of OSMR

Scientific Articles on PubMed

PubMed

Catalog of Genes and Diseases from OMIM

ONCOSTATIN M RECEPTOR; OSMR

Gene and Variant Databases

NCBI Gene
ClinVar

References

Arita K, South AP, Hans‑Filho G, Sakuma TH, Lai‑Cheong J, Clements S, Odashiro M, Odashiro DN, Hans‑Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA. Oncostatin M receptor‑beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet. 2008 Jan;82(1):73‑80. doi: 10.1016/j.ajhg.2007.09.002. Citation on PubMed or Free article on PubMed Central
Chang YT, Wong CK, Chow KC, Tsai CH. Apoptosis in primary cutaneous amyloidosis. Br J Dermatol. 1999 Feb;140(2):210‑5. doi: 10.1111/j.1365‑2133.1999.02651.x. Citation on PubMed
Hermanns HM. Oncostatin M and interleukin‑31: Cytokines, receptors, signal transduction and physiology. Cytokine Growth Factor Rev. 2015 Oct;26(5):545‑58. doi: 10.1016/j.cytogfr.2015.07.006. Epub 2015 Jul 3. Citation on PubMed
Lin MW, Lee DD, Liu TT, Lin YF, Chen SY, Huang CC, Weng HY, Liu YF, Tanaka A, Arita K, Lai‑Cheong J, Palisson F, Chang YT, Wong CK, Matsuura I, McGrath JA, Tsai SF. Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet. 2010 Jan;18(1):26‑32. doi: 10.1038/ejhg.2009.135. Citation on PubMed or Free article on PubMed Central
Wali A, Liu L, Takeichi T, Jelani M, Rahman OU, Heng YK, Thng S, Lee J, Akiyama M, McGrath JA, Betz RC. Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. Acta Derm Venereol. 2015 Nov;95(8):1005‑7. doi: 10.2340/00015555-2104. No abstract available. Citation on PubMed

Genomic Location

The OSMR gene is found on chromosome 5.