Vascular Malformation of the Face: a Rare Case with Follow-up of 18 Years

Abstract

Objective

Vascular malformations are structural anomalies in the blood vessels. They are present at birth and persist throughout life. These malformations can be classified according to the type of vessel involved. A port-wine stain is a vascular malformation characterized by an increased number of ectatic vessels in the dermal vascular plexus, which can be found in any part of the body, including the head and neck region. Over time, most of these stains result in soft tissue hypertrophy and this growth can cause severe facial deformity.

Materials and Methods

This study describes a rare case of a giant proliferative vascular anomaly arising from a port-wine stain on the face.

Results

The report highlights the continuous and proliferative growth of the malformation observed after follow-up of 18 years, as well as the difficulty in establishing the diagnosis due to the complexity and dimension of the lesion and the conditions related to the patient’s low socioeconomic status.

Conclusions

We have described a rare and unusual case report of a giant proliferative vascular malformation arising from a Port-wine stain on the face.

Introduction

Vascular malformations are structural anomalies of the blood vessels. By definition, they are present at birth and persist throughout life. These malformations can be classified according to the type of vessel involved (capillary, venous, arteriovenous) and to hemodynamic characteristics (1) Port-wine stain (PWS) is a congenital capillary malformation commonly found in the head and neck region, which is observed in approximately 0.3% of newborns (2). Over time, most of these stains result in soft tissue hypertrophy and this growth can cause severe facial deformity (3, 5).

In view of the above considerations, the objective of this study was to describe an unusual case of a proliferative vascular anomaly arising from a port-wine stain on the face. This case is interesting because of the possibility of follow-up for 18 years, its continuous and expansive growth, and the proliferation of the vascular malformation resulting in significant facial deformity.

Case Report

A 60-year-old male, rural worker from the Northeastern region of Brazil has been working outdoors exposed to sunshine since he was a 10 year-old boy. The patient reported having been born with a deep purple stain on the upper part of the face, no correlated family history. As an adult, a PWS was diagnosed on the left side of the face, extending along the ophthalmic branch of the trigeminal nerve. At age 42, a tumor proliferation was evident, which involved the eyes, nose and upper lip (Figure 1). Currently, the patient is 60 years old and he presented with an exuberant tumor of vascular origin in the left upper part of the face, which was initially associated with a PWS on his hemi face. The tumor has been growning over a period of 18 years, involving an extensive area from the upper facial third to the upper lip and respecting the limits of the midline of the face and ear. The tumor reached extensive proportions, forming large, rough, red lobes of varying sizes and extending in different planes depending on the growth of these proliferations. These lobes grew as shiny, lobular, pedunculated masses measuring approximately 20 cm in diameter, joined closely together, thus reducing eye opening and deforming the nose (Figure 2). The patient felt embarrassed and suicidal and was complaining about headache, dizziness and a hot, cold and pulsatile feeling in the affected region. A cranial X-ray revealed multiple nodular soft tissue images on the face and the absence of intracranial pathological calcifications (Figure 3). Contrast-enhanced computed tomography identified soft tissue densities formed by clusters of solid nodules located in the skin and subcutaneous cellular tissue of the left /temporoparietal region without bone invasion. (Figure 4). A team of physicians and dentists requested clinical and complementary exams, which suggested the diagnosis of a PWS, a malformation that persisted and reached large proportions during the life of the patient.

Figure 1.

Patient at age 42 (image taken in 1998) Frontal view of face showing tumor proliferation with involvement of eye, nose and upper lip.

Figure 2.

Patient at age 60. Note the exuberant tumor of vascular origin in the left upper part of the face, initially associated with a port-wine stain on his hem face.

Figure 3.

Cranial X-ray showing multiple soft tissue nodular images of the face and the absence of intracranial pathological calcifications.

Figure 4.

Contrast-enhanced Computed Tomography showing bone structures of normal morphology and multiple round lesions, with soft tissue densities forming clusters, located in the skin and subcutaneous cellular tissue throughout the face and temporoparietal regions.

Discussion

The International Society for the Study of Vascular Anomalies classified vascular anomalies into vascular tumors and vascular malformations (6). These entities can be diagnosed by clinical means. However, in uncertain cases, color Doppler, angiography and biopsy can be of help when the diagnosis is not certain (7, 8). This approach could contribute to diagnostic precision, but our patient was extremely reluctant to undergo examinations in closed devices.

Port-wine stains first appear as a pink macule that progresses in size as the child grows, reaching a stage of soft tissue hypertrophy that can cause nodules and even tumors (4, 5). Despite the scarcity of studies correlating sun exposure with the proliferation of vascular malformation, the fact that the patient was a rural worker exposed to sunlight throughout his life, raises the possibility that the sun exposure could be an etiological factor that promoted considerable growth of the congenital PWS reported by the patient (2). No reports of this type of lesion, which arise from a PWS and develop to such a great extent, are available in the medical literature.

Based on these findings and with the help of the multidisciplinary team involved in the case, it can be concluded that the patient has a congenital vascular malformation that reached considerable proportions during his life. This malformation was probably of arterial nature since venous malformations are asymptomatic. The patient reported a constant pulsatile feeling on the affected region throughout his life. However, due to the patient’s unwillingness to take an angiography, it is best to diagnose the lesion as an arterial malformation, since patients with venous malformations are usually deep blue in color and they seldom report symptoms (7). The proliferative malformations in our patient were essentially red.

The prognosis and treatment of vascular malformations arising from PWS is controversial. In 2014, the treatment was considered safe and effective by Cerrati et al, with only a minimally increased risk of bleeding, since the malformation is mainly located in superficial tissues (3). However, our patient had extensive lesions (> 20 cm), therefore, the treatment techniques described in the literature would certainly be a great challenge for our healthcare team, with an increased risk of death.

Conclusions

In summary, this is a rare and unusual case of a giant proliferative VM arising from a PWS on the face. The case calls for attention because of the follow-up period of 18 years and its continuous and proliferative growth. Respecting the bioethical principle of autonomy, the healthcare team accepted the patient’s decision not to undergo treatment.