Neonatal and Pediatric Lupus Erythematosus Workup

  • Author: Jeffrey P Callen, MD; Chief Editor: Lawrence K Jung, MD   more...
 
Updated: Jul 14, 2011
 

Laboratory Testing

Neonatal lupus erythematosus (NLE) is related to the anti-Ro (SSA) antibody in more than 90% of patients. Occasionally, patients only have anti-La (SSB) or anti-U1RNP antibodies. These maternal autoantibodies that cross the placenta can react with various fetal tissues causing an increased risk of acquiring neonatal lupus erythematosus.

Children in whom systemic lupus erythematosus (SLE) is suspected should undergo a serologic evaluation, including antinuclear antibody (ANA), anti-dsDNA, anti-Sm, anti-RNP, anti-Ro (SSA), and anti-La (SSB), as well as measurement of complement levels. Also test for other organ involvement, including a complete blood cell (CBC) count and tests of renal function.

The blood panel may reveal pancytopenia, thrombocytopenia, or leukopenia with a hemolytic anemia. Additionally, perform liver function tests. Hepatomegaly with an elevated transaminase level may be observed.

In addition, screen the maternal serum for antinuclear, anti–double-stranded DNA, anti-SSA/Ro, anti-SSB/La, and anti–U1-RNP antibodies. Despite being positive for Ro and/or La antibodies, many mothers may be healthy and without clinical symptoms during pregnancy. Closely monitor mothers in whom SLE is diagnosed by clinical symptoms and laboratory test results.

In a neonate with congenital heart block or thrombocytopenia, serum autoantibodies should be investigated to rule out neonatal lupus erythematosus, even if a suggestive maternal history is lacking.[3] Neonatal lupus in triplets was described in a patient with undifferentiated connective-tissue disease evolving to SLE.[16] The 3 newborns had only SSA positivity associated with asymptomatic transient neutropenia.

Children with cutaneous neonatal lupus erythematosus should be evaluated for hematologic, hepatic, and cardiac involvement.

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Cardiac Imaging Studies

Frequent ultrasonographic monitoring of the fetal heart rate during pregnancy is recommended in women with autoimmune disorders. Prenatal ultrasonography may help identify neonatal lupus erythematosus (NLE) that affects the heart. Echocardiography may reveal various types of structural deformities in the heart; combined electrocardiography and 24-hour Holter monitoring may reveal various cardiac conduction disorders, which lead to different types of heart blocks.

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Skin Biopsy and Histologic Features

Skin biopsy is useful in patients with either neonatal lupus erythematosus (NLE) or cutaneous lesions of lupus erythematosus during childhood. Histologic examination shows interface dermatitis, moderate hyperkeratosis, follicular plugging, and vacuolar degeneration in the basal cell layer. Epidermal atrophy may be found. Inflammatory infiltrate may be so intense that bulla formation may develop histologically.

An immunofluorescent examination reveals a granular deposition of immunoglobulin G (IgG) at the dermoepidermal junction; IgM and C3 deposition may also be evident.

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Contributor Information and Disclosures
Author

Jeffrey P Callen, MD  Professor of Medicine (Dermatology), Chief, Division of Dermatology, University of Louisville School of Medicine

Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and American College of Rheumatology

Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Electrical Optical Sciences Consulting fee Consulting; Celgene Honoraria Safety Monitoring Committee; GSK - Glaxo Smith Kline Consulting fee Consulting; TenXBioPharma Consulting fee Safety Monitoring Committee

Coauthor(s)

Jack Grzybowski, MD  Staff Physician, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Jack Grzybowski, MD is a member of the following medical societies: Sigma Xi

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Barry L Myones, MD  Associate Professor, Departments of Pediatrics and Immunology, Pediatric Rheumatology Section, Baylor College of Medicine; Director of Research, Pediatric Rheumatology Center, Texas Children's Hospital

Barry L Myones, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Immunologists, American College of Rheumatology, American Heart Association, American Society for Microbiology, Clinical Immunology Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Janet Fairley, MD  Professor and Head, Department of Dermatology, University of Iowa, Roy J and Lucille A Carver College of Medicine

Janet Fairley, MD is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, American Federation for Medical Research, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

Chief Editor

Lawrence K Jung, MD  Chief, Division of Pediatric Rheumatology, Children's National Medical Center

Lawrence K Jung, MD is a member of the following medical societies: American Association for the Advancement of Science, American Association of Immunologists, American College of Rheumatology, Clinical Immunology Society, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

  1. Eftekhari P, Sallé L, Lezoualc'h F, Mialet J, Gastineau M, Briand JP, et al. Anti-SSA/Ro52 autoantibodies blocking the cardiac 5-HT4 serotoninergic receptor could explain neonatal lupus congenital heart block. Eur J Immunol. Oct 2000;30(10):2782-90. [Medline].

  2. Boutjdir M, Chen L, Zhang ZH, Tseng CE, El-Sherif N, Buyon JP. Serum and immunoglobulin G from the mother of a child with congenital heart block induce conduction abnormalities and inhibit L-type calcium channels in a rat heart model. Pediatr Res. Jul 1998;44(1):11-9. [Medline].

  3. Yang Q, Shao XM, Cao Y, Chen C, Cheng GQ, Shi YY, et al. [Neonatal lupus erythematosus: analysis of 8 cases]. Zhonghua Er Ke Za Zhi. Jan 2008;46(1):18-21. [Medline].

  4. Rivera TL, Izmirly PM, Birnbaum BK, et al. Disease progression in mothers of children enrolled in the Research Registry for Neonatal Lupus. Ann Rheum Dis. Jun 2009;68(6):828-35. [Medline].

  5. Spence D, Hornberger L, Hamilton R, Silverman ED. Increased risk of complete congenital heart block in infants born to women with hypothyroidism and anti-Ro and/or anti-La antibodies. J Rheumatol. Jan 2006;33(1):167-70. [Medline].

  6. Peñate Y, Luján D, Rodríguez J, Hernández-Machín B, Montenegro T, Afonso JL, et al. [Neonatal lupus erythematosus: 4 cases and clinical review]. Actas Dermosifiliogr. Dec 2005;96(10):690-6. [Medline].

  7. Asboth D, Kassay E, Noll J, Szalai Z. Neonatal lupus erythematosus: deep and ulcerating form. Borgyogaszati Venerol Szemle. 2000;76:263-5.

  8. Lynn Cheng C, Galbraith S, Holland K. Congenital lupus erythematosus presenting at birth with widespread erosions, pancytopenia, and subsequent hepatobiliary disease. Pediatr Dermatol. Jan-Feb 2010;27(1):109-11. [Medline].

  9. Elish D, Silverberg NB. Neonatal lupus erythematosus. Cutis. Feb 2006;77(2):82-6. [Medline].

  10. Cimaz R, Biggioggero M, Catelli L, Muratori S, Cambiaghi S. Ultraviolet light exposure is not a requirement for the development of cutaneous neonatal lupus. Lupus. 2002;11(4):257-60. [Medline].

  11. Floristan U, Feltes R, González-Beato M, Feito M, Laguna Rde L. Targetoid lesions and neutrophilic dermatosis within neonatal lupus erythematosus: unusual clinical and histologic presentations. J Cutan Med Surg. Jan-Feb 2010;14(1):46-7. [Medline].

  12. Wisuthsarewong W, Soongswang J, Chantorn R. Neonatal lupus erythematosus: clinical character, investigation, and outcome. Pediatr Dermatol. Mar-Apr 2011;28(2):115-21. [Medline].

  13. Brucato A, Frassi M, Franceschini F, Cimaz R, Faden D, Pisoni MP, et al. Risk of congenital complete heart block in newborns of mothers with anti-Ro/SSA antibodies detected by counterimmunoelectrophoresis: a prospective study of 100 women. Arthritis Rheum. Aug 2001;44(8):1832-5. [Medline].

  14. Guettrot-Imbert G, Cohen L, Fermont L, Villain E, Francès C, Thiebaugeorges O, et al. A new presentation of neonatal lupus: 5 cases of isolated mild endocardial fibroelastosis associated with maternal Anti-SSA/Ro and Anti-SSB/La antibodies. J Rheumatol. Feb 2011;38(2):378-86. [Medline].

  15. Boros CA, Spence D, Blaser S, Silverman ED. Hydrocephalus and macrocephaly: new manifestations of neonatal lupus erythematosus. Arthritis Rheum. Mar 15 2007;57(2):261-6. [Medline].

  16. Demaestri M, Sciascia S, Kuzenko A, Bergia R, Barberis L, Lanza MG, et al. Neonatal lupus in triplet pregnancy of a patient with undifferentiated connective tissue disease evolving to systemic lupus erythematosus. Lupus. Apr 2009;18(4):368-71. [Medline].

  17. Yang CH, Chen JY, Lee SC, Luo SF. Successful preventive treatment of congenital heart block during pregnancy in a woman with systemic lupus erythematosus and anti-Sjögren's syndrome A/Ro antibody. J Microbiol Immunol Infect. Oct 2005;38(5):365-9. [Medline].

  18. Buyon JP, Clancy RM, Friedman DM. Cardiac manifestations of neonatal lupus erythematosus: guidelines to management, integrating clues from the bench and bedside. Nat Clin Pract Rheumatol. Mar 2009;5(3):139-48. [Medline].

  19. Friedman DM, Llanos C, Izmirly PM, et al. Evaluation of fetuses in a study of intravenous immunoglobulin as preventive therapy for congenital heart block: Results of a multicenter, prospective, open-label clinical trial. Arthritis Rheum. Apr 2010;62(4):1138-46. [Medline].

  20. Pisoni CN, Brucato A, Ruffatti A, et al. Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study. Arthritis Rheum. Apr 2010;62(4):1147-52. [Medline].

  21. Izmirly PM, Kim MY, Llanos C, et al. Evaluation of the risk of anti-SSA/Ro-SSB/La antibody-associated cardiac manifestations of neonatal lupus in fetuses of mothers with systemic lupus erythematosus exposed to hydroxychloroquine. Ann Rheum Dis. Oct 2010;69(10):1827-30. [Medline].

  22. Shinohara K, Miyagawa S, Fujita T, Aono T, Kidoguchi K. Neonatal lupus erythematosus: results of maternal corticosteroid therapy. Obstet Gynecol. Jun 1999;93(6):952-7. [Medline].

  23. Martin V, Lee LA, Askanase AD, Katholi M, Buyon JP. Long-term followup of children with neonatal lupus and their unaffected siblings. Arthritis Rheum. Sep 2002;46(9):2377-83. [Medline].

  24. Tincani A, Rebaioli CB, Frassi M, Taglietti M, Gorla R, Cavazzana I, et al. Pregnancy and autoimmunity: maternal treatment and maternal disease influence on pregnancy outcome. Autoimmun Rev. Sep 2005;4(7):423-8. [Medline].

  25. Costedoat-Chalumeau N, Amoura Z, Villain E, Cohen L, Piette JC. Anti-SSA/Ro antibodies and the heart: more than complete congenital heart block? A review of electrocardiographic and myocardial abnormalities and of treatment options. Arthritis Res Ther. 2005;7(2):69-73. [Medline]. [Full Text].

  26. Fritsch C, Hoebeke J, Dali H, Ricchiuti V, Isenberg DA, Meyer O, et al. 52-kDa Ro/SSA epitopes preferentially recognized by antibodies from mothers of children with neonatal lupus and congenital heart block. Arthritis Res Ther. 2006;8(1):R4. [Medline]. [Full Text].

  27. Lawrence S, Luy L, Laxer R, Krafchik B, Silverman E. The health of mothers of children with cutaneous neonatal lupus erythematosus differs from that of mothers of children with congenital heart block. Am J Med. Jun 15 2000;108(9):705-9. [Medline].

  28. Lee LA. Transient autoimmunity related to maternal autoantibodies: neonatal lupus. Autoimmun Rev. Apr 2005;4(4):207-13. [Medline].

  29. Yang CH, Chen JY, Lee SC, Luo SF. Successful preventive treatment of congenital heart block during pregnancy in a woman with systemic lupus erythematosus and anti-Sjögren's syndrome A/Ro antibody. J Microbiol Immunol Infect. Oct 2005;38(5):365-9. [Medline].

 
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Neonatal lupus erythematosus.
This child presented with petechial lesions, hepatosplenomegaly, and thrombocytopenia. Initially, he was thought to have histiocytosis (Letterer-Siwe disease); however, a skin biopsy revealed an interface dermatitis, and his mother had circulating autoantibodies.
This child was one of a pair of fraternal twins. Her sibling was not affected, although the mother and both infants had similar autoantibodies in their circulations. Eventually, the lesions seen here resolved and healed without sequelae.
 
 
 
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