The most common symptom associated with neonatal lupus is a Rash that consists of reddish, ring-like skin lesions and resembles the Rash associated with systemic lupus erythematosus. The Rash is temporary (transient), usually developing during the first few weeks of life and clearing up at some point during the next several months. In rare cases, skin lesions may persist into childhood. The face and scalp are most commonly affected. The raccoon eye patter is a big clue to this diagnosis when it is present. Less often the Rash can occur on the trunk, arms and legs. Some affected infants may also exhibit an abnormal sensitivity to sunlight (photosensitivity), which may initially trigger the development of the Rash. Although the most common timing for the Rash is about 6 weeks after birth, sometimes the Rash may not develop until 2-3 months later. Of note breast feeding is not associated with an increased chance of Rash.
The most serious complication of neonatal lupus is a heart condition known as congenital heart block. The occurrence of congenital heart block in infants may be as common as the skin Rash, it is not known. It is the most serious complication and when the block is complete it is a permanent condition and can potentially be life-threatening. Congenital heart block is characterized by an interference with the transfer of the heart beat from the top to the middle (conduction system) that controls the rate that the heart beats. The severity of such conduction abnormalities may vary among affected infants meaning there can be first, second, or third degree blocks, the latter most serious.
The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. In the mild form of heart block, the two upper chambers of the heart (atria) beat normally and there is a slight lag time to trigger the lower chambers (ventricles) but this has no clinical significance. In the more moderate forms some beats get through (second degree block which does slow the heart rate a little) and the most severe form, there is no beat that gets through. This severe form is complete heart block in which the atria beat at a normal rate but the ventricles beat slowly. In some cases, heart block may lead to outs (syncope), breathlessness, and/or Irregular heartbeats (arrhythmias). Some infants may also develop disease of the heart muscle (cardiomyopathy), which can occur in association with thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers (endocardial fibroelastosis). Less often, additional cardiac abnormalities have been reported including inflammation of the myocardium, which is the middle layer of the heart wall, a condition known as myocarditis. In severe cases, life-threatening complications such as heart failure or sudden cardiac arrest can potentially develop. There can also be abnormalities of the mitral and triscuspid valves.
Infants with neonatal lupus may also have low numbers of special red blood cells (platelets) that assist in blood clotting functions (thrombocytopenia), low levels of other circulating red blood cells (anemia), low levels of certain white blood cells (neutropenia), and abnormally large spleen (splenomegaly), an abnormally large liver (hepatomegaly), and a form of liver (hepatic) disease known as cholestatic hepatitis. Cholestatic hepatitis is a rare condition characterized by stoppage or reduced flow of bile from the liver (cholestasis), inflammation of the liver (hepatitis), and yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). Fortunately, anything more than transient elevation of the liver enzymes with no associated symptoms is the most common of the liver abnormalities. Again, most of these non-cardiac abnormalities resolve themselves within the first six months of an affected infant’s life when the maternal antibodies are cleared from the infant’s circulation.
Although extremely rare, some infants with neonatal lupus may have an abnormally large head (macrocephaly). Macrocephaly is defined as a condition in which the circumference of the head is larger than would be expected based upon a child’s age and gender. Some of these infants and children may also develop hydrocephalus, a condition characterized by excessive accumulation of cerebrospinal fluid in the skull that can cause pressure on the tissues of the brain.