Fetal infection with syphilis is highly dependent on the mother's stage of disease. Mothers with untreated primary or secondary disease are extremely likely to pass the infection, while those with latent disease have rates of transmission as low as 2%. Appropriate treatment of the mother during pregnancy generally prevents fetal infection. When infection does occur, the outcome can range from spontaneous abortion to a healthy-appearing child at birth with only latent infection.
Similar to acquired syphilis, congenital infection is divided into early and late stages. There are often no abnormalities noted at birth, but exam or diagnostic findings are nearly always present by three months of age. However, the severity of early disease can range from asymptomatic imaging findings to severe, life-threatening multiorgan/system disease. Early congenital syphilis characteristically first presents with a serosanguinous nasal discharge and rhinitis known as snuffles. The rash of early syphilis is a diffuse maculopapular rash that develops into epithelial sloughing. Vesicles or bullae may also be present and the fluid within is highly infectious. Oral mucous patches are often seen. Facial lesions on the lips and nose, as well as anal lesions, may heal with radiating scars known as rhagades. Visceral involvement is relatively frequent, with the liver often heavily infected, leading to jaundice, splenomegaly, anemia, and thrombocytopenia. Bony abnormalities related to osteochondritis and periostitis are prevalent and are particularly noted in the long bones on imaging. CNS involvement is common in early congenital syphilis.
Children who survive the early disease manifestations will then enter a latent phase. Late symptoms may present years to decades later. Skeletal defects from the osteo-chondritis and periostitis are quite notable, with characteristic facies consisting of a high arched palate, protruding mandible, frontal bossing, and saddle-nose deformity. Other structural defects include palatal and nasal septum perforations, anterior bowing of the lower extremities known as saber shins, and bilateral knee effusions termed Clutton's joints. Hutchinson's triad consists of eighth nerve deafness, interstitial keratitis, and peg-shaped, centrally notched, widely spaced central incisors known as Hutchinson's teeth. Congenital otosyphilis is usually more severe than that seen with acquired syphilis. It typically presents with sudden onset, profound, bilateral hearing loss with rare vestibular symptoms. Untreated, congenital syphilis frequently progresses to neurosyphilis with sequelae similar to the acquired form of disease.
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