A male infant born with an ulcerated vascular mass

A newborn male infant was noted to have a tumour on the left knee at birth. He was born to a gravida 2 para 1 26-year-old mother at 39 weeks’ gestation. Caesarean section was performed because of fetal distress. Maternal health was unremarkable during the pregnancy and there was no maternal exposure to agents known to be teratogenic. Parents were nonconsanguineous. The Apgar scores were 8 at 1 minute and 9 at 5 minutes. Birth weight was 3,200 g and length 50 cm. There was no family history of similar lesions.

On examination, the infant was alert and not in distress. Vital signs were stable. There was a soft to firm, compressible, exophytic, violaceous tumour with overlying coarse telangiectases and a large central ulceration on the left knee (Figure 1). The tumour measured 4 cm in diameter. There were no other cutaneous or systemic abnormalities.

Figure 1.

An exophytic, violaceous tumour with overlying coarse telangiectases and central ulceration on the left knee.

The infant was followed up periodically to monitor the evolution of the lesion. There was no history of bleeding episodes. Within weeks, the tumour was softer and shrinking, and there was progressive regression of the tumour thereafter. The ulceration completely healed within 6 weeks. The tumour completely regressed without any interventions by 12 months, resulting in atrophic and redundant skin on the left knee (Figure 2).

Figure 2.

Involuted tumour at 12 months of age resulting in atrophic and redundant skin on the left knee.

Complete blood cell counts at 1 week of age showed a hemoglobin of 142 g/L, a white cell count of 7.2 × 10⁹/L and a platelet count of 215,000/μL with no evidence of consumptive coagulopathy. Doppler ultrasonography at 2 weeks of age showed a high-flow hypoechoic vascular tumour with arteriovenous microshunts, mostly confined to the subcutaneous tissue.

DISCUSSION

Based on the congenital presentation, typical physical findings, and clinical progression, a diagnosis of rapidly involuting congenital hemangioma (RICH) was made. The Doppler ultrasonographic findings were confirmatory.

Congenital hemangiomas are benign high-flow vascular tumours that proliferate in utero and are fully developed at birth and do not proliferate further postnatally (1–3). Typically, a congenital hemangioma presents as a solitary bluish or violaceous nodule or, less commonly, plaque with overlying telangiectases and venules (4). A pale surrounding halo is quite common (5). A central ulcer may also occur as is illustrated in the present case. Sites of predilection include the head, neck, and limbs, especially around the elbows and knees (1,5).

Two major clinical subtypes are recognized, namely, RICH and noninvoluting congenital hemangioma (NICH), based on their clinical progression (1,3,6). RICHs typically shrink rapidly after birth with complete involution usually by 6 to 14 months of age (1,3,4). NICHs, on the other hand, do not regress but instead grow proportionally with the child (1,6,7). A subset of congenital hemangiomas, known as partially involuting congenital hemangiomas (PICHs) have been recognized (4,6). PICHs begin with a phase of involution lasting until 12 to 30 months at which time the involution halts (4–6).

Congenital hemangiomas account for approximately 3% of all hemangiomas (6). In a multicentre prospective study in San Diego, California, 594 infants were examined by paediatric dermatologists in the first 48 hours of life (8). Two (0.3%) infants were found to have congenital hemangiomas which proved to be RICHs (8). The sex incidence is approximately equal (7). The exact pathogenesis of congenital hemangiomas is not known. Somatic activating mutations in GNA11 and GNAQ have been shown to be associated with congenital hemangiomas (4).

Doppler ultrasonography typically shows fast flow large vessels and arteriovenous shunting, usually confined to the subcutaneous fat and appear heterogeneous often with calcifications (5,6). Histologically, a RICH is composed of well-defined lobules of capillaries, with endothelial cells immunohistochemical staining negative for glucose-transporter-1 protein (GLUT-1), a marker for infantile hemangioma (3,5,6). The lobules of capillaries are surrounded by abundant fibrous tissue (3).

Congenital hemangioma is cosmetically unsightly and may cause distress to family members. Postinvolution skin may appear discoloured, telangiectatic, atrophic and redundant (1,4,9). Other complications include ulceration, hemorrhage, thrombocytopenia and, rarely, heart failure (2–5,9).

The main differential diagnosis is infantile hemangioma. Infantile hemangiomas typically appear in the first few weeks of life as areas of pallor, followed by telangiectatic patches (7). They then grow rapidly in the first few months of life (7). Approximately 80% of infantile hemangiomas reach their maximum growth by 3 months of age. Most infantile hemangiomas cease to grow after 9 months of age (10). Approximately 50% of these lesions will show complete involution by the time a child reaches age 5 years; 75% will have disappeared by age 7 years and 90% will have regressed by the age of 9 years (7,11). Other differential diagnoses include Kaposiform hemangioendothelioma, tufted angioma, infantile myofibromatosis and sarcoma (1,2).

A congenital hemangioma should be suspected if an infant presents with a vascular tumour that is fully developed at birth and does not proliferate postnatally. Time will differentiate RICH from NICH/PICH. RICH is benign and self-limiting. Treatment is usually not necessary apart from reassurance.