Rare Nephrology News

Disease Profile

Sezary syndrome

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

US Estimated

Europe Estimated

Age of onset

Adult

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ICD-10

C84.1

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)

Sezary's lymphoma; Sézary syndrome

Categories

Blood Diseases; Rare Cancers; Skin Diseases

Summary

Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary cells) in the blood, and abnormally enlarged lymph nodes. Other signs and symptoms may include intense itchiness, scaling and peeling of the skin; fever; weight loss; hair loss; outward turning of the eyelids (ectropion); palmoplantar keratoderma; malformation of the nails; and hepatosplenomegaly. The exact cause of Sezary syndrome is currently unknown. Treatment varies based on the signs and symptoms present in each person and the severity of the condition.[1][2]

Symptoms

Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. In Sezary syndrome, specifically, the cancerous T cells are called Sezary cells and are found in the skin, lymph nodes, and blood. They can also spread to other organs in the body, including the liver, spleen, and bone marrow.[1][3]

Although Sezary syndrome can affect people of all ages, it is most commonly diagnosed in adults over age 60. The signs and symptoms of this condition can vary but may include:[1][3]

  • A red, itchy rash that covers large portions of the body
  • Enlarged lymph nodes
  • Alopecia (hair loss)
  • Thickened skin on the palms of the hands and soles of the feet
  • Abnormalities of the fingernails and toenails
  • Ectropion
  • Hepatosplenomegaly (enlarged liver and spleen)

Affected people may also have an increased risk of developing another lymphoma or other type of cancer.[3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal lymphocyte morphology
0004332
Cutaneous T-cell lymphoma
0012192
Dry skin
0000958
Erythroderma
0001019
Lichenification
0100725
Lymphadenopathy
Swollen lymph nodes
0002716
Neoplasm of the skin
Skin tumors
Tumor of the skin

[ more ]

 0008069
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

 0000989
30%-79% of people have these symptoms
Alopecia
Hair loss
0001596
Hepatomegaly
Enlarged liver
0002240
Immunodeficiency
Decreased immune function
0002721
Nail dystrophy
Poor nail formation
0008404
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Abnormal immunoglobulin level
0010701
Abnormal pleura morphology
0002103
Ectropion
Eyelid turned out
0000656
Edema
Fluid retention
Water retention

[ more ]

 0000969
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Irregular hyperpigmentation
0007400
Peripheral neuropathy
0009830
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

 0003202
Tremor
0001337
Do you have updated information on this disease? We want to hear from you.

Cause

Although a small percentage of cases of Sezary syndrome are associated with human T-lymphotropic viruses type 1 and type 2, the underlying cause of most cases is currently unknown.[3] In people affected by the condition, the cancerous Tcells (also called Sezary cells) usually have one or more chromosomal abnormalities. These genetic changes are considered "somatic" because they are acquired during a person's lifetime, are not inherited and only affect the DNA of the cancerous cells. Although any chromosome can be affected, people with Sezary syndrome often have deletions of DNA from chromosomes 10 and 17 or duplications of DNA on chromosomes 8 and 17. However, it is unclear whether these alterations play a role in the development of the condition.[4]

Diagnosis

A diagnosis of Sezary syndrome is often suspected in people with characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include:[2][3]

  • A skin biopsy
  • A complete blood count
  • Peripheral blood smear
  • Immunophenotyping
  • Tcell receptor (TCR) gene rearrangement test
  • Flow cytometry

To learn more about the diagnosis of Sezary syndrome, including specific information about each of the tests listed above, please visit the National Cancer Institute's Web site. Simply click on the link and scroll down to the section entitled "tests that examine the skin and blood are used to detect (find) and diagnose mycosis fungoides and the Sezary syndrome"

Treatment

In general, there are six different treatment options available to people with Sezary syndrome. These include:[2]

  • Photodynamic therapy
  • Radiation therapy
  • Chemotherapy
  • Other drug therapy (i.e. topical steriods, retinoids)
  • Biologic therapy
  • Targeted therapy

To learn more about the treatment and management of Sezary syndrome, including specific information about each of the treatments listed above, please visit the National Cancer Institute's Web site. Simply click on the link to access this resource.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Mogamulizumab(Brand name: Poteligeo) Manufactured by Kyowa Kirin Pharmaceutical Development Inc.
    FDA-approved indication: August 2018, mogamulizumab (Poteligeo) was approved for the treatment of adult patients with relapsed or refractory mycosis fungoides (MF) or Sézary syndrome (SS) after at least one prior systemic therapy.
    National Library of Medicine Drug Information Portal

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.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • Genetics Home Reference (GHR) contains information on Sezary syndrome. This website is maintained by the National Library of Medicine.
      • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Sezary syndrome. Click on the link to view a sample search on this topic.

          References

          1. Lauren C Pinter-Brown, MD. Cutaneous T-Cell Lymphoma. Medscape Reference. March 2015; https://emedicine.medscape.com/article/2139720-overview#showall.
          2. Mycosis Fungoides and the Sézary Syndrome Treatment (PDQ®). National Cancer Institute. May 2015; https://www.cancer.gov/types/lymphoma/patient/mycosis-fungoides-treatment-pdq.
          3. Elise A Olsen, MD; Alain H Rook, MD. UpToDate. Clinical presentation, pathologic features, and diagnosis of Sézary syndrome. May 2013; Accessed 7/30/2015.
          4. Sézary syndrome. Genetics Home Reference. March 2013; https://ghr.nlm.nih.gov/condition/sezary-syndrome.

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