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Special Feature
Mar 2012

Picture of the Month—Diagnosis

Arch Pediatr Adolesc Med. 2012;166(3):284. doi:10.1001/archpediatrics.2011.789b
Denouement and Discussion: A Case of Neonatal Lupus Erythematosus and Associated Hepatitis

Based on the cutaneous findings and positive antibodies to Sjögren syndrome antigen A/Ro (SSA/Ro) and Sjögren syndrome antigen B/La (SSB/La), a diagnosis of neonatal lupus erythematosus (NLE) was established. Results of scalp fungal culture were negative. Electrocardiogram (ECG) and echocardiogram were normal. Photoprotection was recommended and use of hydrocortisone ointment, 2.5%, was started twice daily for 2 weeks. The scalp lesions resolved by 6 months of age with no sequelae. No further manifestations of liver insufficiency developed, and hepatic transaminase levels normalized by 8 months of age. The patient's mother had been diagnosed with mixed connective tissue disease 3 years prior, but her antibody status was uncertain.

Neonatal lupus erythematosus is an autoimmune syndrome that may have cutaneous, cardiac, hematologic, and hepatic manifestations.1 The syndrome is acquired by the transplacental passage of antibodies to SSA/Ro and/or SSB/La extractable nuclear antigens. These antibodies are often found in patients with known rheumatic disease, such as systemic lupus erythematosus and Sjögren syndrome.2 However, at the time of birth, between 30% and 66% of mothers of babies with NLE are asymptomatic and without a rheumatologic diagnosis.3 An estimated 2% of babies born to mothers having these antibodies will develop NLE. The risk of having another child with NLE rises to an estimated 25% in mothers who have a previous child with NLE, and therefore, their subsequent pregnancies need to be followed up closely with fetal echocardiography.4

The most common manifestation of NLE is a rash characterized by annular erythematous plaques with scale or central atrophy, located primarily on the scalp and periorbital area.4 The cutaneous lesions may be misdiagnosed as tinea corporis, atopic dermatitis, seborrheic dermatitis, or urticaria.5 The mean age at onset of cutaneous findings is 6 weeks, with about 23% of children having a rash at birth.2 New lesions may develop during the first several months of life, but rarely after 6 months of age. The rash is present for an average of 15 to 17 weeks and usually resolves without scarring.2

The most serious manifestation of NLE, congenital atrioventricular block (CAVB), is irreversible. Ninety to 95% of all cases of CAVB of any degree are attributable to NLE. Prospective studies reveal that 1% to 2% of babies born to mothers with the anti–SSA/Ro antibody have third-degree CAVB.6 Because the CAVB occurs during the in utero development of the fetal atrioventricular node, onset will not occur after birth of the child.3

Other manifestations of NLE include hepatobiliary disease and hematologic abnormalities. Liver involvement is seen in 10% to 26% of patients with NLE and most commonly presents weeks to months after birth with transient liver enzyme elevations, as in this patient. Less common presentations include cholestasis with hyperbilirubinemia or, rarely, acute liver failure.7 Thrombocytopenia may occur in as many 15% of cases, and anemia and neutropenia have been reported.8

If NLE is suspected, evaluation of the infant should include physical examination, ECG, and serologic testing for SSA/Ro and SSA/La antibodies. A complete blood cell count with differential and liver function panels should be considered to evaluate for cytopenia or hepatobiliary involvement. Diagnosis is established by the presence of the characteristic rash and/or congenital heart block and the presence of antibodies to SSA/Ro and/or SSB/La in the infant or mother. Skin biopsy is usually not necessary.1 A normal ECG after birth rules out heart involvement. If antibodies are not present in the child or mother, seek an alternative diagnosis.

Treatment of NLE varies depending on the underlying manifestations. The rash and other noncardiac manifestations are generally self-limited and resolve with the disappearance of maternal antibodies in 6 to 8 months. A combination of parental reassurance, photoprotection (if a rash is present), and observation of the child is most often adequate. Depending on the degree, treatment of CAVB ranges from reassurance to pacemaker placement. Gastroenterology referral should be considered when rapid rises in liver enzyme levels or signs of liver insufficiency are observed. However, serial laboratory monitoring and supportive care are usually adequate. Systemic corticosteroids and other immunosuppressive agents are usually not required.

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Article Information

Correspondence: Mark F. Hoeltzel, MD, Section of Rheumatology, Children's Mercy Hospitals, 2401 Gillham Rd, Kansas City, MO 64108 (mfhoeltzel@cmh.edu).

Accepted for Publication: July 23, 2011.

Author Contributions:Study concept and design: Adil and Hoeltzel. Acquisition of data: Horii and Hoeltzel. Drafting of the manuscript: Adil. Critical revision of the manuscript for important intellectual content: Horii and Hoeltzel. Study supervision: Horii and Hoeltzel.

Financial Disclosure: None reported.

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Buyon JP, Clancy RM, Friedman DM. Cardiac manifestations of neonatal lupus erythematosus.  Nat Clin Pract Rheumatol. 2009;5(3):139-148PubMedCrossref
Lee LA, Sokol RJ, Buyon JP. Hepatobiliary disease in neonatal lupus: prevalence and clinical characteristics in cases enrolled in a national registry.  Pediatrics. 2002;109(1):E11PubMedCrossref
Silverman E, Jaeggi E. Non-cardiac manifestations of neonatal lupus erythematosus.  Scand J Immunol. 2010;72(3):223-225PubMedCrossref