Clinical Manifestations of Congenital Syphilis With Differential Diagnosis of Congenital Ichthyosis: A Case Report

Congenital syphilis (CS) is one of the leading causes of stillbirth, neonatal death, and congenital infection, occurring through transplacental transmission. This disease presents with a wide range of symptoms, making differential diagnoses important in the initial evaluation. As CS remains a serious public health problem, describing its clinical manifestations in newborns (NBs) is essential for accurate diagnosis and appropriate treatment. Female newborn, term, delivered vaginally. On physical examination, the skin showed abundant vernix, hardened and fissured, with edematous and cyanotic extremities, as well as malformations of the toes. The mother had a history of syphilis treated six months earlier, with a VDRL titer of 1:2 at that time; her most recent VDRL showed an increased titer of 1:8, with no record of retreatment. Based on these findings, congenital syphilis was initially suspected, and crystalline penicillin was started at a dose of 50,000 IU/kg/dose. The possibility of congenital ichthyosis was also considered. A dermatology evaluation was requested, and penicillin treatment was continued until the seventh day of life. Additionally, lumbar puncture and laboratory tests were performed: VDRL was 1:8 in blood and nonreactive in cerebrospinal fluid, which showed elevated protein levels. Skin hydration was initiated, and the newborn was kept in a humidified incubator and continued on penicillin, showing clinical improvement. When inadequately treated during pregnancy, CS is associated with early neonatal manifestations such as skin lesions (erythematous macules and vesiculobullous eruptions), jaundice, and bone abnormalities. In such cases, it is essential that healthcare professionals also pay attention to nonclassical signs which, although nonspecific, may point to other diagnoses, such as congenital ichthyosis – a genetic condition that also presents with intense skin desquamation and diffuse skin changes. Proper treatment of CS during pregnancy, preferably in the first trimester, is completely effective in preventing vertical transmission, alongside appropriate prenatal follow-up. Furthermore, increasing awareness about the possible consequences of CS and identifying preventable factors are crucial for disease control and the protection of maternal and child health.