Rare Dermatology News

Disease Profile

Subcutaneous panniculitis-like T-cell lymphoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

C83.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

SPTCL

Categories

Rare Cancers

Summary

Subcutaneous panniculitis-like Tcell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin.[1][2] Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as panniculitis. The cause of this type of cancer is unknown, but genetic factors may be involved.[3] It can be diagnosed by a skin biopsy of the affected area. Treatment for SPTCL depends on the symptoms but often involves taking a steroid medication or a medication that lessens the immune response. Some people with more aggressive SPTCL may need chemotherapy. SPTCL can occur in children or adults, but is typically diagnosed in the 30s. For unknown reasons, it occurs more often in women than men.[1] 

SPTCL is a very slow-growing cancer and does not usually spread beyond the subcutaneous fat layer. About 20% of people with SPTCL will also develop another condition called hemophagocytic lymphohistiocytosis (HLH)[3] in which the body makes too many immune cells. These immune cells attack other cells in the body and cause an enlarged spleen and a decreased level of blood cells in the body.

Diagnosis

Subcutaneous panniculitis-like Tcell lymphoma (SPTCL) is diagnosed based on the symptoms and patient’s history. In addition, a skin biopsy that includes the underlying tissue is examined for features in the cells typical for SPTCL. Sometimes, more than one skin biopsy is necessary to make the diagnosis. Additional blood work may be done to check for conditions that can look like SPTCL.[1]

Treatment

Many people with subcutaneous panniculitis-like Tcell lymphoma (SPTCL) can be treated with oral corticosteroids drugs and/or other drugs that suppress the immune system, such as methotrexate, cyclosporine or bexarotene. Some people may need chemotherapy and may be treated with a combination of cyclophosphamide, doxorubicin, vincristine and prednisone, known as CHOP chemotherapy.[1][2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Subcutaneous panniculitis-like T-cell lymphoma. Click on the link to view a sample search on this topic.

        References

        1. Freedman A, Aster JC. Clinical manifestations, pathologic features, and diagnosis of subcutaneous panniculitis-like T cell lymphoma. UpToDate. Feb 2018; www.uptodate.com/contents/clinical-manifestations-pathologic-features-and-diagnosis-of-subcutaneous-panniculitis-like-t-cell-lymphoma.
        2. Damasco F, Akilov OE. Rare Cutaneous T-cell lymphomas. Hemol Oncol Clin North Am. Feb 2018; 33(1):135-148. https://www.ncbi.nlm.nih.gov/pubmed/30497671.
        3. Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, et al. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nat Genet. Dec 2018; 50(12):1650-1657. https://www.ncbi.nlm.nih.gov/pubmed/30374066.

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