A 2-week-old boy is brought to the office due to runny nose, low-grade fever, and skin rash for 2 days. The patient was born at 38 weeks gestation to a 19-year-old woman who had poor access to prenatal care. Temperature is 38 C (100.4 F). Vital signs are otherwise normal for age. On examination, the patient has nasal drainage and peeling skin on his face, hands, and feet. Hepatosplenomegaly and generalized lymphadenopathy are present. Which of the following is the most likely diagnosis?
Clinical features of early congenital syphilis | |
Perinatal |
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Mucocutaneous |
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Musculoskeletal |
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Reticuloendothelial |
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This neonate has fever, hepatosplenomegaly, and generalized lymphadenopathy, which are nonspecific findings for congenital infection. This patient's rhinorrhea and desquamating rash involving the hands and feet are further suggestive of congenital syphilis.
Congenital syphilis is transmitted transplacentally from an infected mother. Routine prenatal screening with treatment (ie, penicillin) when indicated can decrease the risk for transmission; however, cases still occur due to limited access to prenatal care or primary infection acquired after screening.
Although many neonates with congenital syphilis are asymptomatic, classic early findings in symptomatic patients include the following:
Snuffles: Copious, persistent rhinorrhea develops after age 1 week. It is caused by erosions of the mucosa in the nasal cavity, and discharge may be clear/white, bloody, or purulent.
Maculopapular rash: Lesions usually develop after the onset of rhinorrhea, classically involving the palms, soles, and buttocks, and then desquamate. The rash may be associated with fissures near orifices (eg, anal, oral).
Skeletal anomalies: Symmetric and bilateral long bone involvement can cause pain, swelling, and limited movement.
(Choice A) The rash of erythema multiforme often involves the palms and soles and may be precipitated by an infection (eg, Epstein-Barr virus) associated with fever, as well as enlargement of the lymph nodes, liver, and spleen. However, the rash is characterized by target lesions with a dusky center, findings not seen in this patient.
(Choice B) Kawasaki disease, which is exceedingly rare in neonates, can present with a desquamating rash involving the hands and feet. However, other diagnostic criteria include fever ≥5 days, a cervical node >1.5 cm, conjunctivitis, and mucositis, none of which are seen in this patient. In addition, generalized lymphadenopathy and hepatosplenomegaly are inconsistent with this diagnosis.
(Choice C) Measles initially presents with a prodrome of fever and rhinorrhea but also conjunctivitis and cough, findings not seen in this patient. The subsequent rash spreads cephalocaudally and typically spares the palms and soles, making this diagnosis unlikely in this patient.
(Choice D) Scarlet fever due to group A Streptococcus causes pharyngitis with a diffuse, fine, rough (sandpaper) rash that spares the palms and soles, unlike in this patient. Reticuloendothelial involvement (ie, diffuse lymphadenopathy, hepatosplenomegaly) is not seen.
Educational objective:
Congenital syphilis should be suspected in a neonate with rhinorrhea and a desquamating, maculopapular rash involving the palms/soles, particularly in those with limited prenatal care. Nonspecific findings of congenital infection include fever, hepatosplenomegaly, and lymphadenopathy.