Neonatal and Pediatric Lupus Erythematosus Clinical Presentation
- Author: Jeffrey P Callen, MD; Chief Editor: Lawrence K Jung, MD more...
History and Physical Examination
Maternal history
Roughly half of the mothers at the time of childbirth are healthy and do not have signs or symptoms of lupus erythematosus (LE) or other collagen-vascular disorders; the remainder have some symptoms of LE or Sjögren syndrome or another collagen-vascular disease. Most mothers of children with neonatal lupus erythematosus (NLE) develop signs of collagen-vascular disease if followed for a long enough period.[4] When carefully questioned, these mothers may report dry eyes, arthralgia, myalgia, or arthritis. One report linked the presence of hypothyroidism in mothers with Ro with an increased risk of congenital heart block.[5]
Many seropositive mothers with anti-SSA and anti-SSB antibodies give birth to infants who do not show signs and symptoms of neonatal lupus erythematosus. However, in those who have had a baby with NLE, the risk of cardiac and/or skin disease for a future pregnancy is roughly 25%.
Neonatal lupus erythematosus
The mother usually discovers neonatal lupus erythematosus that affects the skin shortly after birth. In some instances, the mother notes that the infant is sensitive to sunlight.
Cutaneous findings
The cutaneous findings are transient and resemble those of subacute cutaneous lupus erythematosus (SCLE). Annular erythematous plaques with a slight scale characterize neonatal lupus erythematosus and appear predominately on the scalp, neck, or face (typically periorbital in distribution) (see the following image), but similar plaques may appear on the trunk or extremities. They may be urticarialike and desquamative, occasionally with ulceration.[6, 7] They are sometimes crusted; this finding is observed more often in male babies than in female babies.
Atrophic lesions may develop[8] ; however, over time, even these lesions leave little residual change. Telangiectasia is often prominent and is the sole cutaneous manifestation reported in some patients. The atrophic telangiectatic changes are most evident near the temples and scalp. The latter site may be associated with a permanent alopecia. Dyspigmentation is frequent, but, with time, this change spontaneously resolves.
Neonatal lupus erythematosus. Two thirds of patients with the skin findings have them at birth,[9] with the remainder developing them within the first 2-5 months of life. In some infants, solar exposure seems to precipitate the eruption, although ultraviolet (UV) light may not be responsible.[10] The eruptions usually disappear when maternal antibodies are absent in the neonatal circulation at about the sixth month of life.
At times, small angiomalike papulonodules may be seen. Follicular plugging is usually not evident. Targetoid plaques may rarely be seen.[11]
In one study, cutaneous involvement was characterized as erythematous patches (91.7%), SCLE (50%), petechiae (41.7%), persistent cutis marmorata (16.7%), and discoidal lesions (8.3%).[12]
In children selected because of cutaneous involvement, thrombocytopenia and hepatic disease may be as common as cardiac disease, and these diseases occur more often in male babies with crusted plaques than in female babies. Thus, children with cutaneous neonatal lupus erythematosus should be evaluated for hematologic, hepatic, and cardiac involvement.
Cardiac disease
Cardiac rhythm abnormalities and conduction defects may be observed in various forms, but the occurrence of congenital complete heart block is most closely related to neonatal lupus erythematosus, with an incidence of 15-30%. Cardiac blocks usually develop in utero between the 18th and 20th weeks of pregnancy. Mothers with primary Sjögren syndrome or undifferentiated autoimmune syndrome have a greater risk of delivering an infant with congenital complete heart block than those with SLE.[13]
Neonatal lupus erythematosus that affects the heart is usually noted upon physical examination at birth but may be recognized with ultrasonography in utero. Complete congenital heart block is the usual finding, but incomplete heart block is possible. This finding may be noted as a bradycardia in utero or during physical examination at birth.
Heart failure is a well-recognized complication during the neonatal period. Other disturbances may also be present. These disturbances lead to blocks in the atrioventricular or Purkinje systems, such as sinus bradycardia and prolongation of the QT interval. Incomplete heart block and an irregular heartbeat may also be present. In some cases, myocarditis and pericarditis can develop and lead to bradycardia. Congenital heart block may be associated with endocardial fibroelastosis, which can be severe, and dilated cardiomyopathy.[14]
Circulating fetal blood antibodies, which have been passively acquired, can lead to permanent heart disease and transient cutaneous manifestations. Hematologic and hepatic abnormalities may also occur.
Hematologic findings
Hematologic disturbances (eg, hemolytic anemia, profound thrombocytopenia, neutropenia) may occur in the first 2 weeks of life. Autoantibodies, mainly anti-Ro, can bind directly to the neutrophil and cause neutropenia. Thrombocytopenia may manifest as petechiae (see the image below). Hematologic symptoms may vary from benign to severe and usually appear at around the second week of life and disappear by the end of the second month (these findings may improve or disappear as maternal antibodies are metabolized)
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. Other manifestations
Hydrocephalus and macrocephaly may be new manifestations of neonatal lupus erythematosus.[15] Infants born to mothers with anti-Ro antibodies should probably be monitored for hydrocephalus as part of their routine physical examination.
The clinical picture of hepatobiliary diseases may vary from mild elevations of aminotransferase levels to conjugated hyperbilirubinemia with normal or slightly elevated aminotransferase levels. Hepatosplenomegaly is an occasional transient finding.
Pneumonitis may manifest as tachypnea or tachycardia.
Lupus erythematosus of childhood
Photosensitivity, arthritis/polyarthritis, arthralgia, and fever may be the presenting symptoms of childhood lupus erythematosus. The patient may also report having a malar rash or present with discoid lupus erythematosus or SCLE lesions.
Adults with discoid lupus erythematosus (DLE) lesions have a low risk of systemic disease; however, the risk of systemic disease and progression to systemic involvement appears to be greater in children, with one report suggesting rates of 50%. Therefore, question children with discoid lupus erythematosus or SCLE lesions about symptoms of pleuritis, pericarditis, and neurologic or renal involvement.
Drug-induced lupus erythematosus
Drug-induced lupus erythematosus may develop in children and adolescents. There have been reports of multiple cases of a lupus erythematosus–like disease in patients who take minocycline for acne. These patients often demonstrate fever and polyarthralgia or arthritis.
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