Congenital tumor?

Case report: An eleven-day-old boy is presented because of an indolent, bluish nodule parieto-occipital left since birth. Within a few days, a black crust had formed on the lesion. Pregnancy history was unremarkable, and delivery was by vacuum extraction for macrosomia of unclear etiology (birth weight of 5100 g). The mother is a healthy first gravida/first para.

The dermatological status shows a good general condition of the infant. Parieto-occipital on the capillitium near the vertex, there is a soft, slightly ulcerated, erythematous-livid nodule about 2 cm in size with a central blackish crust (Fig. 1) . On pressure, some pus deflates. In addition, a hematoma of about 1.5 cm with soft swelling parieto-occipital right in the sense of a cephalhematoma in status after vacuum extraction is found.

Quiz

Based on this information, what is the most likely diagnosis?
A Congenital hemangioma.
B Congenital myofibroma
C Congenital melanoma
D Congenital fibrosarcoma.
E Congenital juvenile xanthogranuloma.

Diagnosis and Discussion: Congenital red or livid nodules present a particular diagnostic challenge. Although the color suggests a vascular lesion, do not be fooled. Especially in the neonatal period there are some “hemangioma mimics” which have to be considered and excluded in the differential diagnosis.

We always arrange for soft tissue sonography in such situations. If this is clearly consistent with a congenital hemangioma, a conservative approach with regular clinical follow-up is warranted, as these findings often regress spontaneously (“rapidly-involuting congenital hemangioma”, RICH). If the sonographic findings are unclear, a biopsy is indicated, since all of the above-mentioned differential diagnoses are possible and a malignant process must be excluded.

In our case, sonography showed no highly vascularized tumor, so a punch biopsy was performed under local anesthesia. This was consistent with infantile myofibroma.

Infantile myofibromas (IM) are rare tumors of early childhood composed of benign proliferation of fibroblasts and myofibroblasts. The most common form, up to 80%, is solitary IM, which presents as an isolated tumor and is present at birth in 50-60% of cases. The solitary IM is found in most cases on the head and neck. The trunk and extremities are affected much less frequently.

There are also multicentric forms where there may be multiple to multiple tumors on the skin, bones, muscles and internal organs. While tumors of the skin and bones usually regress spontaneously in size, involvement of the internal organs by mass phenomena can not infrequently lead to life-threatening courses.

In our case, there was no other tumor. The IM regressed significantly after only two months. Further regression can be expected in the course, and any residual findings can be surgically removed.