|Year : 2014 | Volume
| Issue : 3 | Page : 110-113
Neonatal lupus erythematosus-three different presentations
Vikrant Saoji1, Satish Deopujari2
1 Consultant Dermatologist, Nagpur, Maharashtra, India
2 Consultant Pediatrician, Nagpur, Maharashtra, India
|Date of Web Publication||30-Oct-2014|
22, Dandige Layout, Shankar Nagar, Nagpur - 440010
Source of Support: None, Conflict of Interest: None
Neonatal lupus erythematosus (NLE) is lupus erythematosus occurring in infants due to transplacental transmission of autoantibodies usually of anti SSA/RO and SSB/La antibodies. Like lupus erythematosus it presents with varied skin manifestations. Three cases of NLE with different presentations are presented. In all the three children, skin lesions were present since birth. All patients and mothers were positive for anti-SSA/Ro and anti-SSB/La antibodies. First case presented with few annular lesions second case with thrombocytopenia and purpura. Third case presented with hypopigmented atrophic patches on the face and upper trunk. Mothers of Cases 1 and 3 were asymptomatic, whereas the mother of Case 2 presented with purpuric lesions with mild arthritis during pregnancy, but was not suspected as connective tissue disorder. Echocardiography was normal in all the three cases indicating no cardiac involvement. Case 1 was lost to follow-up. Lesions resolved by 6-8 months in Cases 2 and 3 requiring only topical steroids. Case 3 received platelet transfusions and intravenous IgG for persisting thrombocytopenia.
Keywords: Annular lesions, neonatal lupus erythematosus, thrombocytopenia
|How to cite this article:|
Saoji V, Deopujari S. Neonatal lupus erythematosus-three different presentations. Indian J Paediatr Dermatol 2014;15:110-3
|How to cite this URL:|
Saoji V, Deopujari S. Neonatal lupus erythematosus-three different presentations. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Sep 20];15:110-3. Available from: http://www.ijpd.in/text.asp?2014/15/3/110/143658
| Introduction|| |
Neonatal lupus erythematosus (NLE) is a lupus erythematosus developing in neonates due to passive transfer of autoantibodies from mother in utero. NLE is usually associated with anti-Ro (SSA), anti-La (SSB) autoantibodies.  Like systemic lupus erythematosus (SLE), NLE presents with multi-organ involvement but skin and heart are the main targets. Cutaneous manifestations of NLE includes annular lesions, periorbital erythema (raccoon eyes), discoid lesion, and atrophic patches.  Because of rarity of the condition and self-limiting nature of the illness, the diagnosis can be missed. Three cases of neonatal lupus with skin involvement are presented.
| Case reports|| |
A 2-week-old female child presented with few annular lesions [Figure 1], present at birth. The child was otherwise normal. Appearance of the new lesions during next few days prompted us to investigate further. Both mother and child were positive for antinuclear antibody (ANA) by ELISA. On immunoblot both were positive for anti-SSA and SSB antibodies. Echocardiography of the child was normal. Mother was asymptomatic. The child was lost to follow-up.
A 2-month-old female child presented with multiple purpuric lesions [Figure 2] and [Figure 3], a few of which were noticed by the parents at birth. On investigation, her platelet count was 10,000/cmm and hemoglobin - 6.8 g%, liver enzymes were normal, she received platelet and blood transfusion. For persisting thrombocytopenia at 4 months, the child received intravenous (IV) IgG. While investigating the cause of thrombocytopenia, baby's ANA was found to be positive by ELISA. On further investigating, both mother and child were positive for ANA with speckled pattern of immunofluorescence and both were positive by immunoblot for SSA and SSB antibodies. Echocardiography and neurosonogram of the baby was normal. By 6 months, baby recovered completely.
Mother had purpuric lesions during pregnancy, but all her investations like partial thromboplastin time, prothrombin time, prothrombin index were normal. Postdelivery, mother had only pigmentary changes. In past, mother had medical termination of pregnancy because of abnormal fetal growth with normal karyotypic studies.
A 2-month-old female child presented with hypopigmented atrophic erythematous patches on face [Figure 4] and upper trunk and neck [Figure 5]. There were few annular lesions on the trunk. The lesions were present since birth. Skin biopsy was suggestive of lupus erythematosus. Child's ANA was positive by ELISA. Echocardiography of the child was normal. Mother was asymptomatic. There was no history of abortions in mother. The pregnancy was uneventful except for oligohydramnios. Mother's ANA was positive, with speckled pattern of immunofluorescence. Immunoblot study of mother and the child was positive for SSA and SSB autoantibodies. At 8 months, the entire lesion was healed with minimal atrophic scarring. Mother and child both were asymptomatic until 1½ years of follow-up.
| Discussion|| |
Of various antinuclear antibodies, anti-Ro (SSA) and anti-La (SSB) antibodies are associated with NLE. Small percentage of NLE is associated with anti-U 1 ribonuclear protein antibodies.  Almost all the mothers who have a child with NLE are anti-Ro/SSA positive , and around 50% mothers are anti-LA/SSB positive.  Around 2% of general population is positive for anti-SSA antibody.  It is estimated that the risk of SSA antibody positive mother to delivered a child of NLB is around 2%. However, the risk increase during subsequent deliveries after the delivery of NLE child to 25-30%.  In a prospective analysis of 39 subsequent deliveries following a birth of NLE child, Research Registry for Neonatal Lupus (RRNL) in the US reported recurrence rate of 36% (14 infants). Of which 9 (23%) infants had cutaneous manifestations and 5 (13%) had cardiac involvement.  All our three infants were the first born babies of their parents.
Like SLE in adults, NLE also affects female more commonly though male infants with NLE are also reported. , All our patients were female. Approximately, 50% infants with NLE presents with cutaneous lesions and 50% presents with cardiac manifestations. However, both these manifestation coexist only in 10% patients.  Other manifestations includes liver involvement (10-26%), , hematologic involvement (27%). ,
Like SLE, the cutaneous manifestation in NLE is also varied. Child can present with erythematous annular lesions, polycyclic lesions, atrophic discoid lesions, and purpuric lesions. Erythematous lesions around the eyes gives a characteristic appearance of raccoon eye and is considered as diagnostic feature. , All our three patients presented with different types of skin lesions. First child presented with annular lesions. NLE should be considered in all the infants with annular lesion. Second child presented with purpuric lesions due to thrombocytopenia and the third child presented with discoid atrophic lesion on face and upper trunk. In the first child, the involvement was mild and the diagnosis could have been missed. It may be possible that some cases of NLE may go un-diagnosed because of mild and self-limiting nature of the disease. RRNL identified five cases of NLE diagnosed retrospectively by analyzing the clinical photograph after a subsequent child was diagnosed as having NLE.  NLE should be considered in differential diagnosis of any unusual inflammatory skin lesion in neonates or infants specially if the lesions persists for 6 months. Clearance of the skin lesions is usually seen by 6-12 months of age due to disappearance of maternally derived antibodies from fetal circulation. No specific treatment is usually required except in severe cases. Topical or systemic steroids may be required. In our patients (Cases 2 and 3) the lesions cleared within 6-8 months with minimal atrophic scarring in Case 3. Our patients received only topical steroid for skin lesions. The skin lesions in NLE may be present at birth,  but may appear after few weeks. , In all our patients, skin lesions were present at birth, but because of mild nature of the lesions it was overlooked.
Heart is another common target in NLE affecting conduction system, resulting in congenital heart block, a very unusual involvement in adults with LE. The inflammation if severe, results in scarring of conduction system and permanent heart block. ,, In all our three patients, echocardiography was normal indicating no cardiac involvement. NLE with heart block is associated with high mortality (20%) and many patients (67%) needs permanent pacemaker. , Many of the deaths due to cardiac involvement are seen during 1 st month.  Systemic steroid started early in the pregnancy to the mother with anti-Ro/La antibodies can prevent the development of the disease in fetus. , Cardiac block once established (scarring of conductive tissues) cannot be reversed. , Cardiac abnormalities mostly develops in second trimester and the child is usually born with congenital heart block which is irreversible. Since the risk of getting NLE is high during subsequent pregnancies regular fetal cardiac monitoring after 16 weeks of pregnancy is recommended. , A mother who had a baby with NLE with only skin involvement may deliver a child with NLE with cardiac involvement during subsequent pregnancies. All our cases had cutaneous involvement without cardiac involvement, but these asymptomatic mothers can deliver a child with cardiac involvement during subsequent pregnancies.
Hematologic manifestations in NLE is seen in 27% of patients which includes leukopenia, thrombocytopenia and anemia.  One of our patient's (Case 2) skin lesions were because of thrombocytopenia and not because of the autoantibodies. Because of seriousness of thrombocytopenia our patient received IV IgG. The mother of this child also presented with purpuric lesions during pregnancy, which were not properly investigated. Even in this child the diagnosis of NLE was considered late.
Majority of mothers of NLE infants are asymptomatic and found to have anti-SSA/SSB antibodies only after the NLE is diagnosed in child or already suffering from connective tissue disorders like SLE or Sjogren syndrome. , In one study of 52 mothers of children with heart block due to NLE, 23 (44%) were asymptomatic.  Mothers of Cases 1 and 3 were asymptomatic. The mother of thrombocytopenic child had a history of purpura during pregnancy but diagnosis of LE was not suspected. She also had a history of fetal death during past pregnancy, which also could be because of LE. These asymptomatic mothers may develop one of the autoimmune connective tissue disorder in future and should be monitored. 
Since RO/La antigens are inadequately expressed in adults there manifestations are unusual in adults hence most of the mothers are asymptomatic. Whereas these antigens are expressed in fetal tissues hence these antibodies can cause the disease in infants and neonates. ,, Since the asymptomatic mother continue to harbor these antibodies there is high-risk of having a second child with NLE. Cutaneous manifestations of NLE being benign usually does not need more than a topical steroid however the systemic manifestation of this self-limiting disease still may need more aggressive treatment.
These cases are presented to highlight this rare, difficult to diagnose and potentially serious disease.
| References|| |
|1.||Paller AS, Mancini AJ. Collagen vascular disorders. In: Paller AS, Mancini AJ, editors. Hurwitz Clinical Pediatric Dermatology. 3 rd ed. Philadelphia: Elsevier Saunders; 2006. p. 573-608. |
|2.||Lee LA, Frank MB, McCubbin VR, Reichlin M. Autoantibodies of neonatal lupus erythematosus. J Invest Dermatol 1994;102:963-6. |
|3.||Miyagawa S, Fukumoto T, Hashimoto K, Hachiya T, Yoshioka A, Shirai T. Maternal autoimmune response to recombinant Ro/SSA and La/SSB proteins in Japanese neonatal lupus erythem atosus. Autoimmunity 1995;21:277-82. |
|4.||Hackett CB, McAleer MA, O′Donnell BF. Rings in the neonate. Ir Med J 2011;104:52-3. |
|5.||Izmirly PM, Llanos C, Lee LA, Askanase A, Kim MY, Buyon JP. Cutaneous manifestations of neonatal lupus and risk of subsequent congenital heart block. Arthritis Rheum 2010;62:1153-7. |
|6.||Perez MF, Torres ME, Buján MM, Lanoël A, Cervini AB, Pierini AM. Neonatal lupus erythematosus: A report of four cases. An Bras Dermatol 2011;86:347-51. |
|7.||Sawant S, Amladi ST, Wadhawa SL, Nayak CS, Nikam BP. Cutaneous neonatal lupus erythematosus with unusual features. Indian J Dermatol Venereol Leprol 2007;73:250-2. |
|8.||Clancy RM, Askanase AD, Kapur RP, Chiopelas E, Azar N, Miranda-Carus ME, et al. Transdifferentiation of cardiac fibroblasts, a fetal factor in anti-SSA/Ro-SSB/La antibody-mediated congenital heart block. J Immunol 2002;169:2156-63. |
|9.||Buyon JP, Hiebert R, Copel J, Craft J, Friedman D, Katholi M, et al. Autoimmune-associated congenital heart block: Demographics, mortality, morbidity and recurrence rates obtained from a national neonatal lupus registry. J Am Coll Cardiol 1998;31:1658-66. |
|10.||Waltuck J, Buyon JP. Autoantibody-associated congenital heart block: Outcome in mothers and children. Ann Intern Med 1994;120:544-51. |
|11.||Shinohara K, Miyagawa S, Fujita T, Aono T, Kidoguchi K. Neonatal lupus erythematosus: Results of maternal corticosteroid therapy. Obstet Gynecol 1999;93:952-7. |
|12.||Palit A, Inamadar AC. Current treatment strategies: Collagen vascular diseases in children. Indian J Dermatol 2012;57:449-58. |
|13.||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:R4. |
|14.||Buyon JP. Neonatal lupus: Bedside to bench and back. Scand J Rheumatol 1996;25:271-6. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]