Sézary syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.

People with Sézary syndrome develop a red, severely itchy rash (erythroderma) that covers large portions of their body. Sézary cells are found in the rash. However, the skin cells themselves are not cancerous; the skin problems result when Sézary cells move from the blood into the skin. People with Sézary syndrome also have enlarged lymph nodes (lymphadenopathy). Other common signs and symptoms of this condition include hair loss (alopecia), skin swelling (edema), thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), abnormalities of the fingernails and toenails, and lower eyelids that turn outward (ectropion). Some people with Sézary syndrome are less able to control their body temperature than people without the condition.

The cancerous T cells can spread to other organs in the body, including the lymph nodes, liver, spleen, and bone marrow. In addition, affected individuals have an increased risk of developing another lymphoma or other type of cancer.

Sézary syndrome most often occurs in adults over age 60 and usually progresses rapidly; historically, affected individuals survived an average of 2 to 4 years after development of the condition, although survival has improved with newer treatments.

Although Sézary syndrome is sometimes referred to as a variant of another cutaneous T-cell lymphoma called mycosis fungoides, these two cancers are generally considered separate conditions.

ORPHANET DEFINITION Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Pattern unknown

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Annual incidence: <1 / 1 000 000; United States; Value and class. Annual incidence: <1 / 1 000 000; Norway; Value and class.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal T cell morphology · Very frequent (99-80%)

Abnormal increase or decrease of total or subset T cell count. T cells are commonly characterized as CD3+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. These may include both TCR alpha/beta and gamma/delta T cells.

Abnormal lymphocyte morphology · Very frequent (99-80%)

An abnormality of lymphocytes.

Cutaneous T-cell lymphoma · Very frequent (99-80%)

A type of T-cell lymphoma that exhibits malignant infiltration of the skin.

Dry skin · Very frequent (99-80%)

Skin characterized by the lack of natural or normal moisture.

Erythroderma · Very frequent (99-80%)

An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.

Lichenification · Very frequent (99-80%)

Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.

Lymphadenopathy · Very frequent (99-80%)

Enlargement (swelling) of a lymph node.

Lymphoma · Very frequent (99-80%)

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.

Neoplasm of the skin · Very frequent (99-80%)

A tumor (abnormal growth of tissue) of the skin.

Pruritus · Very frequent (99-80%)

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Alopecia · Frequent (79-30%)

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Hepatomegaly · Frequent (79-30%)

Abnormally increased size of the liver.

Immunodeficiency · Frequent (79-30%)

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Increased CD4:CD8 ratio · Frequent (79-30%)

An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.

Other findings in the same source

From: Orphanet

Additional reported features include Nail dystrophy (Frequent (79-30%)); Palmoplantar keratoderma (Frequent (79-30%)); Splenomegaly (Frequent (79-30%)); Abnormal immunoglobulin level (Occasional (29-5%)); Abnormality of the pleura (Occasional (29-5%)); Chills (Occasional (29-5%)); Ectropion (Occasional (29-5%)); Edema (Occasional (29-5%)); Gangrene (Occasional (29-5%)); Hypothermia (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Adult

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Pattern unknown

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Annual incidence: <1 / 1 000 000; United States; Value and class. Annual incidence: <1 / 1 000 000; Norway; Value and class.

Which doctor should you see?

The suggested department for discussing Sézary syndrome is Oncology, with a oncologist and relevant organ specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics; Relevant organ specialist / Surgical Oncology as indicated.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Has the exact tumour type been confirmed, and is staging relevant?
• What is the goal of each proposed treatment option?
• How will side effects, daily function and supportive care be addressed?

Treatment discussions and follow-up

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.