Neonatal lupus erythematosus

What it is

From: Orphanet

A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.

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.

Autoimmune antibody positivity · Very frequent (99-80%)

The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.

Abnormality of blood and blood-forming tissues · Frequent (79-30%)

An abnormality of the hematopoietic system.

Abnormality of the liver · Frequent (79-30%)

An abnormality of the liver.

Abnormality of the skin · Frequent (79-30%)

An abnormality of the skin.

Abnormal cerebral white matter morphology · Occasional (29-5%)

An abnormality of the cerebral white matter.

Anemia · Occasional (29-5%)

A reduction in erythrocytes volume or hemoglobin concentration.

Arrhythmia · Occasional (29-5%)

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.

Atrioventricular block · Occasional (29-5%)

Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.

Cutaneous photosensitivity · Occasional (29-5%)

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Decreased total neutrophil count · Occasional (29-5%)

Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.

Dilated cardiomyopathy · Occasional (29-5%)

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.

Elevated circulating hepatic transaminase concentration · Occasional (29-5%)

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Erythematous plaque · Occasional (29-5%)

A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.

Heart block · Occasional (29-5%)

Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.

Other findings in the same source

From: Orphanet

Additional reported features include Hepatomegaly (Occasional (29-5%)); Hydrocephalus (Occasional (29-5%)); Hyperkeratosis (Occasional (29-5%)); Maculopapular exanthema (Occasional (29-5%)); Malar rash (Occasional (29-5%)); Parakeratosis (Occasional (29-5%)); Skin rash (Occasional (29-5%)); Thrombocytopenia (Occasional (29-5%)); Abnormal bleeding (Very rare (<4-1%)); Abnormal electrophysiology of sinoatrial node origin (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Neonatal

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Prevalence at birth: 1-9 / 100 000; United States; Value and class. Point prevalence: 1-9 / 1 000 000; United States; Value and class.

Which doctor should you see?

The suggested department for discussing Neonatal lupus erythematosus is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Neonatal lupus erythematosus. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

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.