Venous malformation (VM) is the most common type of vascular malformation that affects approximately 1% of the population with 40% occurring in the head and neck region (1). It is mostly sporadic with 1.2% being familial (2). A mutation in the TIE-2 gene, a receptor for angiopoietin 1, has been identified in familial (3), and in up to 50% of sporadic (4), VM cases.

Venous malformation is present at birth and increases in size proportionally with the child (5). It may suddenly expand in response to hormonal changes or trauma (6). It may present later in life (6) with pain, swelling, ulceration, loss of function, and deformity (6, 7). Symptoms specific to orbital and/or periorbital VM include reduced visual acuity, diplopia, globe dystopia, and distensibility, where the lesion increases in size on head dependency or Valsalva maneuver (8, 9).

Histologically VM consists of a network of anomalous ectatic venous channels lined with flat endothelium (10, 11). Deficiency of smooth muscle cells and elastic tissue within the walls of the affected veins leads to sequential “blowout” of the channels as the walls become progressively thinner (6). Venous stasis within these channels leads to thrombosis and subsequent thrombophlebitis. Dystrophic calcification within the thrombus results in the formation of phleboliths (6, 12).

Diagnosis of VM is made by careful history and physical examination and confirmed by appropriate imaging, with magnetic resonance imaging (MRI) with gadolinium contrast being the single most useful investigation (13, 14). VM appears isotense with muscle on T1-weighted sequence, and uniform enhancement with gadolinium. It appears uniformly hypertense on T2-weighted sequence. Flow voids represent phleboliths within the dilated channels (6).

Venous malformation has been categorized into common VM, familial cutaneous-mucosal VM presenting with multiple lesions affecting the skin and mucosa (15), blue rubber bleb syndrome (Bean syndrome) affecting the skin, soft tissue, and gastrointestinal tract (16), glomuvenous malformations affecting the skin with nodular or plaque-like lesions, sometimes with a cobblestone appearance (15), cerebral cavernous malformations that may present with seizures, headaches, or focal neurological deficit (17), or be part of a mixed lesion (15) or limb altered growth syndrome (18).

The heterogeneous nature of common VM affecting different types of tissues and involving various topographic regions necessitates individualized treatments (19). There is currently limited data on the management of orbital and/or periorbital VM (1, 6, 8). This study reviewed our management of common VM affecting the orbit and/or periorbital area.

Consecutive patients with common VM were identified from the prospectively maintained vascular anomalies database at the Centre for the Study & Treatment of Vascular Birthmarks between 1996 and 2015. All patients with orbital/periorbital VM were selected for this study, which was carried out with an exemption from Hutt Valley DHB internal review board. Written informed patient or parental consent was obtained for publication of their images.

Demographic details of the patients, anatomic site(s) affected, symptoms and signs, family history of VM, and types of treatment(s) were recorded, supplemented by information from the medical records. The location of the VM was classified as either orbital, where the lesion was confined to the orbit; periorbital, where the lesion affected the periorbital structures; or a combination of orbital and periorbital involvement. Symptomatic improvement and complications associated with treatment were analyzed.

Of the 1,907 consecutive patients with vascular anomalies, 316 patients had common VM, with orbital and/or periorbital involvement in 24 (0.8%) patients. A total of 15 (62%) patients were females, and 9 (38%) were males, with a mean age of 30 (range, 1–68) years. A total of 12 (50%) patients had combined orbital and periorbital involvement, 6 (25%) patients had periorbital lesions only, and 6 (25%) had a lesion confined to the orbit. Presenting symptoms included cosmetic concerns (n = 17, 71%), distensibility (n = 15, 63%), pain (n = 9, 38%), and diplopia (n = 4, 17%). VM caused globe dystopia (n = 13, 54%), enophthalmos (n = 6, 25%), proptosis (n = 3, 13%), exotropia (n = 3, 13%), and pseudoptosis with visual obstruction (n = 3, 13%) (Table 1).

The patients were managed through our multidisciplinary vascular anomalies clinic. Most patients had undergone imaging on referral. A total of 19 patients had an MRI with gadolinium enhancement, and 1 patient had a contrast enhanced computed tomography. Management was determined by the extent and location of the VM and the patients’ symptoms. Conservative management was advised if there were no or minimal symptoms and/or according to the patient’s preference. A total of 11 (46%) patients were managed conservatively with the mean length of follow-up of 2 (range, 1–26) years. Ethanol sclerotherapy (ES) was performed on six (25%) patients with extensive facial VM with orbital/periorbital involvement (Table 2). The patients required one to seven (mean, 2) ES sessions resulting in improvement of symptom in five (83%) patients. One patient developed reduced infraorbital nerve sensation, and another patient had skin necrosis of the upper lip requiring excision and direct closure. A total of 13 (54%) patients underwent active treatment with complete surgical excision for localized lesions in 4 (31%) patients, as a surgical debulking procedure for extensive orbital/periorbital lesions in 3 (23%) patients and as an adjunct to ES in 6 (46%) patients (Table 2). All 13 patients had symptomatic improvement following surgery. One patient developed ectropion of the lower lid postoperatively requiring surgical correction (n = 1, 8%). One (8%) patient suffered amblyopia and impaired visual development due to prolonged occlusion of the visual axis by a large orbital and periorbital VM (Case 3). None of the patients in this cohort, either managed conservatively or having undergone ES and/or surgical intervention, suffered reduction in visual acuity during the follow-up period. None of the patients in this cohort sustained iatrogenic strabismus or globe dystopia following ES and/or surgery.

Representative cases of orbital/periorbital VM who underwent active treatment are presented below.

Venous malformation affects different topographical regions and tissue types, with varying presentations including swelling/contour deformity, skin discoloration, pain, or loss of function. Categorization of VM can be complex, especially in the head and neck area where it may affect several different tissue types in a single or multiple topographic regions and/or across different subregions. Therefore, treatment cannot be generalized based on a particular topographic region or subregion. The orbit is a typical example where VM can affect orbital tissue (e.g., being intraconal) and/or periorbital tissue such as the conjunctiva and eyelids (19).

Management of orbital and periorbital VM begins with a careful history and physical examination (6, 20). While isolated, localized VM confined to the skin can be diagnosed clinically without imaging, MRI with gadolinium contrast is often required to confirm the diagnosis, define the extent of the lesion, the tissue(s) involved and to assist treatment planning (21, 22). The goals of treatment include reduction of symptoms, improvement of function and/or cosmesis. Management options for orbital/periorbital VM include observation, sclerotherapy, surgical excision, or a combination of these within a multidisciplinary setting (23, 24).

Conservative treatment is recommended for patients with VM causing no or minimal symptoms. ES is preferred for extensive facial VM with periorbital involvement where surgical excision is not an option (25).

Surgery is used as a primary treatment for localized lesions in which complete surgical excision is feasible with low morbidity (6). No postoperative visual complications or recurrence of the VM was observed in this subgroup of patients. While the ultimate aim is complete eradication of the lesion, this may not be possible due to the location and/or the extent of the VM (26). Surgery is used to debulk extensive orbital/periorbital VM when sclerotherapy is not possible because of the location, or as an adjunct to sclerotherapy (6, 22). One patient developed ectropion of the lower lid postoperatively requiring surgical correction. This is consistent with our previous finding of low complication associated with surgery in selected VM patients (6). All our patients achieved symptomatic improvement following surgical treatment.

Visual prognosis for common orbital/periorbital VM is generally good, especially among adults. However, visual prognosis is more guarded in newborn presenting with large orbital/periorbital VM that obstructs the central visual axis, resulting in amblyopia despite early intervention.

This series included a subgroup of patients with extensive facial VM with orbital and/or periorbital involvement. The VM was treated with ES as previously described (27). Ethanol acts as a sclerosant by causing hypertonic dehydration of cells, protein denaturation, thrombosis, and vessel occlusion (25, 27). This leads to an intense inflammatory response producing swelling. Complications of ES include tissue necrosis, nerve damage, pain, swelling, deep vein thrombosis, renal injury, and cardiopulmonary failure (22, 28). One patient developed reduced infraorbital sensation, and another patient developed skin necrosis requiring surgical debridement and direct closure. This was part of the major complications that occurred in 5.6% of patients in a series of 56 patients with VM treated with ES we have reported previously (27).

Orbital and/or periorbital VMs are heterogeneous and require individualized treatment in a multidisciplinary setting. A flowchart demonstrating the proposed management algorithm is presented on Figure 5.

This study that was carried out with an exemption from Hutt Valley DHB internal review board. Written informed patient or parental consent was obtained for publication of their images.

This paper was presented, in part, at the Oculoplastic Surgeons’ Society Annual Meeting, Bristol, United Kingdom, June 19–21, 2013; and the 85th Annual Scientific Congress of the Royal Australasian College of Surgeons, Brisbane, Australia, May 2–6, 2016.

ST formulated the study hypothesis and designed the study. LB, KC, and FS collated the data. LB, KC, FS, and ST analyzed the data. LB and ST drafted the manuscript. All the authors read, commented, and approved the manuscript.

ST is an inventor of the patent application Treatment of Vascular Anomalies (62/287657), 2016. The authors otherwise declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.