Sturge–Weber syndrome (SWS) is a rare congenital disorder that belongs to the group of neuroectodermal development anomalies called “phakomatoses”.
From an epidemiological point of view, SWS occurs in all races, and there is no sexual predilection.1 At present, the etiology of SWS is unknown, although many theories have been raised. The most widely-accepted theory regards it as a genetic disease with incomplete penetrance, because usually no member of the patient’s family presents the typical complete set of symptoms of this syndrome.2 As a general rule, SWS is diagnosed at birth or in infancy only on the basis of its medical signs.
The development of secondary diseases and complications occurs during the whole course of life (Table 1). The symptoms reported in the literature do not always coexist in SWS.
Many authors have classified syndromes according to the different associations of symptoms described in the literature: (a) syndromes with at least three signs (complete forms), characterized by cutaneous, ocular, and neurological manifestations; and (b) syndromes with at least two signs (incomplete forms), characterized by either cutaneous and ocular manifestations or neurological and cutaneous manifestations. In SWS, the cutaneous lesion is often referred to as “port–wine stain” or “nevus flammeus”.
It is a flat and usually unilateral angioma affecting 96% of patients, and it is visible at birth. The nevus is composed of one or more stains with an irregular and uneven shape, distinct borders, and variable color. Sometimes it can evolve into a nodular lesion. It usually occurs in the skin, innervated by the first or second branch of the trigeminal nerve. There are several neurological manifestations, and they both depend on the location of the leptomeningeal angioma, which commonly occurs in the occipital and parietal areas, and on the secondary effects of the angioma.
They include seizures, which can be drug-resistant; focal deficiencies, such as hemiparesis and hemianopsia, which are often transitory and defined as “stroke-like episodes”; headache; and developmental disorders, such as psychomotor and learning disorders and mental retardation.
Thirty percent of patients with SWS display increased intraocular pressure and approximately one-third of these patients develop glaucoma, while two-thirds have hydrophthalmos. Other manifestations include conjunctival, episcleral, and choroidal hemangiomas.1 In general, the existing oral lesions are located ipsilaterally to the skin lesion, and bilaterally when the skin lesions are also bilateral. The most affected areas are the lips and cheeks, which show a flat bluish-red angioma that lightens to pressure.
The lips might be hypertrophic and only affected on one side. When the gums are affected, they can show alterations ranging from mild hypertrophy to the formation of abnormal masses that make chewing impossible.
These patients present with large plaque accumulations and periodontal pseudopockets. Hyperplastic lesions affect the marginal and attached gingiva, causing massive spontaneous bleeding because of the intense neoangiogenesis typical of patients with SWS or as a consequence of minor traumas and superficial ulcers. If hyperplasia is not treated, it could problems in patients’ relationships because of aesthetic and phonetic reasons, and it can also interfere with tooth eruption. Gingival hypertrophy can be ascribed to the gingival location of the hemangioma; however, it could also be related to the anticonvulsant therapy with diphenylhydantoin or phenobarbital.
The tongue is less frequently affected and might have hemihypertrophy and teleangectasias. Secondary manifestations might be periodontal abscesses and bleeding, both of inflammatory and traumatic origin in the case of marked hypertrophy.
Systemic manifestations include angiomatous malformations of visceral, focal, or diffuse nature, which have been described in the thyroid, lungs, intestines, kidneys, spleen, pancreas, and ovaries; atrophy of branches on the contralateral side of the facial nevus and hemisensory phenomena, as well as clinical pictures of diplegia–paraplegia–quadriplegia; extracranial angiomas and hyperplastic vegetations of soft tissues; aortic contraction; macrocephaly; and scoliosis.
The aim of this work is to discuss the treatment of 11 cases of generalized gingival hyperplasia in SWS, a pathology exposing patients to bleeding diathesis, with a strong tendency to relapse in surgically-treated regions due to the angiomatous nature of this syndrome. The present study deals with the surgical treatment of generalized gingival hyperplasia of patients with SWS, comparing traditional surgery, CO2, and neodymium-doped yttrium aluminium garnet (Nd:Yag) laser treatment. We assess the treatment results and follow ups, and investigate the best technique to: (a) control intraoperative surgical timing; (b) control postoperative pain after the excision of the hypertrophic gingival tissue; (c) reduce the frequency of relapse in the treated area; and (d) ensure a rapid and compliant postoperative course.
Materials and methods
We report a retrospective study of 11 cases of patients affected SWS, with generalized gingival hyperplasia and angiomatous lesions of the oral cavity, treated with different surgical procedures. Informed consent was obtained by all the patients included in this study. This study was carried out in accordance with the Declaration of Helsinki. Upon physical examination, and with medical history taken into consideration, eight patients presented with clinical features of the complete form of SWS, while the remaining three patients presented with several clinical manifestations of the incomplete form. Specifically, two patients were affected by cutaneous and ocular manifestations, while only one patient had cutaneous and neurological manifestations (Table 2).
Upon intraoral examination, all patients presented with a significant and generalized hypertrophy of gingival tissues, whose consistency seemed to be fibro-elastic; we noticed dental anomalies in only four patients. There were also four patients with macroglossia. In all examined cases, we reported poor oral hygiene, sometimes with tartar accumulation.
The peculiarity of patients with SWS is the presence of an intense neoangiogenesis.9,10 This histological feature exposes the patient with SWS to a concrete bleeding diathesis, which increases the risk of intraoperative and postoperative complications. In all cases, we opted for the excision of the hypertrophic gingival tissue; the surgical treatment aimed at rehabilitating the patients’ oral cavity in order to make it less difficult for the patient to eat, speak, and perform normal oral maneuvers. Consequently, in the treatment of these patients, there was a high hemorrhage and anesthesia risk to be considered, owing to visible angiomatous lesions that extensively affected the oral mucosa and to the enormous difficulty in the anesthesia management under narcosis. All patients with SWS were included in the same protocol under general anesthesia.
General anesthesia allowed better monitoring of vital parameters, which is essential for this type of surgery. Traditional scalpel surgery was performed in three patients; the only requirement was to prepare at least 3 mm keratinized mucosa at the end of surgery. After administration of a local anesthetic, an initial external chamfering was made using a no. 15 Bard–Parker blade. After incision, the margin of which was extended to 2 mm beyond the lesion, we removed hypertrophic tissues with Adson forceps, always applying gauze soaked in tranexamic acid on the surgical site. Subsequently, we performed debridement with ultrasonic surgery, together with an interrupted 2–0 silk suture.
The remaining eight patients underwent laser gingivectomy. Specifically, four were treated with electrosurgery and a CO2 laser. After excision of the hypertrophic mass, and following the above-mentioned operational guidelines, electrosurgery required the use of a CO2 laser, which focused on the area surrounding the perilesional mucosa; The CO2 laser was used with a rotary motion of variable length, depending on the initial size of the lesion requiring treatment.
The remaining four patients were treated with a Nd:Yag laser at 1.06, with a power of 4 or 6 W. Laser treatments proved to be highly accurate. They also allowed the control of intraoperative bleeding, thus making the surgical field clearly visible. In order to measure the patients’ pain response, we used a visual analog scale ranging from 0 (no pain) to 10 (unbearable pain). The visual analog scale scores were recorded privately at 15, 30, and 60 days by a research assistant who was unaware of the purpose of the study.
In the follow up, we clinically evaluated the tissue response and the possible presence of relapse in the surgically-treated areas. Research assistants who were unaware of the purpose of the study performed both evaluations.