Neonatal systemic lupus erythematosus

Other Names: Neonatal SLE; Neonatal lupus syndrome; Neonatal lupus; Congenital lupus erythematosus; Congenital lupus

Neonatal lupus erythematosus (NLE) refers to a clinical spectrum of cutaneous, cardiac, and systemic abnormalities observed in newborn infants whose mothers have autoantibodies against Ro/SSA and La/SSB.

History

The condition was first described in 1954 by McCuistion and Schoch who reported a case of transient lupus skin lesion in an infant with an ANA-positive mother .

Signs and symmptoms

The most common clinical manifestations of NLE are, in decreasing order of frequency, dermatologic, cardiac, and hepatic abnormalities . Some infants may also have hematologic, neurologic, or splenic abnormalities. One or more systems may be involved.

Cutaneous lesions may be present at birth but often appear within the first few weeks of life. Annular erythematous or polycystic plaques with or without fine scales characterize NLE and appear predominately on the scalp, neck, or face (typically periorbital in distribution), but similar plaques may appear on the trunk or extremities.

The dermatitis resembles the rash of subacute cutaneous lupus erythematosus rather than the malar rash of SLE. Periorbital erythema, referred to as “raccoon eye” or “owl eye,” is a very common characteristic . At times, the lesions may be urticarial, desquamative, ulcerative, or crusted . Bullous lesions may be seen with a particular predilection for the soles of the feet.

The cardiac manifestations include conduction abnormalities (first-, second-, and third-degree heart block) and cardiomyopathy . Third-degree heart block, once established, is usually irreversible . Congenital heart block may present as bradycardia noted in utero or during physical examination at birth. Conduction disturbances may also present as irregular heartbeat and prolongation of the QT interval . Congenital heart block may be associated with endocardial fibroelastosis and cardiomyopathy . In some cases, myocarditis and pericarditis can develop which may lead to bradycardia. Heart failure is a well-recognized complication during the neonatal period.

The clinical pictures of hepatobiliary involvement may take the forms of elevation of liver enzymes (such as aspartate aminotransferase and alanine aminotransferase) and/or conjugated hyperbilirubinemia occurring a few weeks or months after birth and resolving thereafter. Some infants may have mild hepatomegaly and, less commonly, splenomegaly . The hepatomegaly and splenomegaly are usually transient. Cholestatic hepatitis and hepatic failure may also occur.

Hematologic disturbances (e.g., hemolytic anemia, thrombocytopenia, and neutropenia) may occur in the first 2 weeks of life. Infants with hematological involvement are usually asymptomatic . Autoantibodies, mainly anti-Ro, bind directly to the neutrophil and cause neutropenia. Thrombocytopenia may manifest as petechiae. Hematologic symptoms usually appear at around the second week of life and disappear by the end of the second month. Lymphopenia is a relatively common finding in adults with SLE but is not a characteristic hematologic abnormality of NLE .

Other abnormalities such as hydrocephalus and macrocephaly may occur . Aseptic meningitis and myelopathy have rarely been reported. Pneumonitis may manifest as tachypnea and/or tachycardia.

Diagnosis

The diagnosis is usually established based on the clinical features and the demonstration of NLE-associated antibodies in the serum of the mother or the affected infant . NLE can mimic many conditions .

Differential diagnosis Differential diagnosis of NLE includes seborrheic dermatitis, atopic dermatitis, neonatal acne, tinea corporis, psoriasis, granuloma annulare, erythema multiforme, Langerhans cell histiocytosis, congenital rubella, congenital syphilis, Bloom syndrome, and Rothmund-Thomson syndrome .

Treatment

Neonates with NLE should be managed at a tertiary care center. Multidisciplinary team involvement may also be indicated. Patients with NLE with cardiac involvement require regular monitoring to assess cardiac function and the need for a pacemaker. A pacemaker is often necessary for those who are unable to compensate for a slow heart rate. Serial echocardiography to monitor for a prolonged PR interval should also be arranged. If the cardiac involvement is severe, activity may have to be restricted in the young child.

Sunscreens may be useful in the treatment of cutaneous lupus erythematosus, but a neonate is less likely to be exposed to sunlight excessively. Nevertheless, solar exposure should be avoided if possible. Parents should be advised to apply sunscreen well before solar exposure and to use a sunscreen with a high SPF that provides a broad-spectrum (UV-A) coverage which is water resistant. Behavior modification to include solar avoidance should be encouraged. Protective clothing is highly desirable. Strategies aimed at preventing disease before irrevocable scarring ensues are a high priority.

Skin lesions of NLE can be treated with mild topical corticosteroids. Antimalarial agents have potential toxicity and a slow onset of action that their use in the treatment of this transient condition is probably not indicated .

Laser therapy may be considered for residual telangiectasia. Systemic corticosteroids and immunosuppressive agents are generally not indicated in the treatment of NLE. Children with NLE need continued followup, especially before adolescence and if the mother herself has an autoimmune disease . Although the child may not be at increased risk of developing SLE, the development of some form of autoimmune disease in early childhood may be of concern.

Infants with severe hepatic and hematological involvement may require treatment with systemic corticosteroids, intravenous immunoglobulin, and/or immunosuppressive agents .

NIH genetic and rare disease info

• NIH info on Neonatal systemic lupus erythematosus

Neonatal systemic lupus erythematosus is a rare disease.

Neonatal systemic lupus erythematosus Resources
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