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IJCRR - 9(4), February, 2017

Pages: 21-25

Date of Publication: 20-Feb-2017

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Hemorrhagic risks associated with dental procedure in a rare case of Type II Sturge weber syndrome

Author: Ashwini Nerkar1, Rajeev Gadgil2, Ajay Bhoosreddy3, Karan Shah4

Category: Healthcare

Abstract:Aim: Sturge weber syndrome (SWS) is a sporadic congenital neurocutaneous disorder. It belongs to phakomatoses group of disorders. It is basically combinations of manifestations such as port-wine stains (PWS) of the face, ipsilateral leptomeningeal angioma (cerebral malformations and tumours), glaucoma, seizures and mental retardation. Sturge weber syndrome type II have no evidence of brain involvement though it shows a vascular malformation on the face and the possibility of glaucoma. We hereby delineate a case of a female, reported with PWS and diagnosed as Type II Sturge weber syndrome.
Case Report: We reported a case of a 35-year-old female who had a diffused swelling on the right maxillary region corresponding to the distribution of the cutaneous port-wine stain and glaucoma of the right eye. Positive manifestations with respect to skin, eyes and oral cavity along with negative radiographic findings, we arrived to the diagnosis of Type II Sturge weber syndrome.
Discussion: Differential diagnosis of SWS includes Rendu Osler Weber syndrome, Von Hippel Lindau Disease and Maffucci Syndrome. Diagnosis is made only on the basis of clinical and imaging features.
Conclusion: Dental procedures are associated with increased possibility of hemorrhage in sturge weber syndrome. Thus, doing treatment in such patients is a difficult task for oral health care practitioners. Therefore the intent of the presented case is to keep in background a clinical scenario of similar pattern, if observed, will need to be diagnosed with utmost caution prior to any dental procedure.

Keywords: Encephalotrigeminal angiomatosis, Ocular manifestations, Oral manifestations, Sturge weber syndrome, Vascular lesions

Full Text:

INTRODUCTION

Sturge weber syndrome (SWS), also known as, meningofacial angiomatosis[1], encephalotrigeminal angiomatosis [2] and encephalotrigeminal angiomyomatosis [3] is congenital and non-familial in its origin [4]. It belongs to syndromes of phakomatoses disorders (mother-spot diseases) [4].It is one of the Systemic syndromes of Phakomatoses pigmentovascularis (PPV) [5] and is also categorized into neurocutaneous disorders[6].In 1860 Schirmer and in 1879 Sturge associated dermatological and ophthalmic manifestations to this neurologic condition ,which was later on accompanied by radiological alterations given by Weber.[7] The increase in the formulation of mutant Gaq protein is due to a somatic activating mutation in guanine nucleotide-binding protein alpha-q (GNAQ).This process is found to be affiliated with SWS [8].It is typically a static lesion but few cases with progressing lesions have been reported [9]. Estimated frequency is of 1 per 50,000 live births [10]. SWS is characterized by the presence of leptomeningeal angiomas , PWS (sharply demarcated vascular lesions that occur unilaterally along the dermatomes supplied by first two divisions of trigeminal nerve), along with ocular disorders, CNS involvement and oral involvement[11].Manifestation of the syndrome is due to endurant dysfunction of embryonal vascular system [12] which develops during the 6th week of embryonic life[13].

Presence of only two of the positive findings i.e. presence of facial angiomas , ocular involvement such as glaucoma, which may or may not be present, suggests diagnosis of Type II SWS. Complete absence of CNS involvement is a peculiar finding of type II SWS[14]. Manifestations such as ipsilateral angiomatosis of lips (causing macrochelia ) can be seen. Intraorally, gingival lesion which can be present as vascular hyperplasia or massive hemangiomatous proliferation . Also, pyogenic granulomas may be seen. Unilateral angiomatosis of buccal mucosa, palate, and floor of the mouth is seen on the affected side. Ipsilateral hypertrophy of alveolus, premature eruption, or delayed eruption and malocclusion are the other abnormalities reported till date[15]. Owing to its occasional incidence and a wide spectrum of exemplifications in its manifestations (skin +brain +eyes +oral cavity) we report a case of a female, showing idiosyncratic illustrations of this syndrome.

CASE-REPORT

A 35 year old female reported with a chief complaint of pain and swelling on right mid-face region and presented with pigmentation in the same region, which was static in size since birth. However, with increase in the age, apparent increase in the intensity of colour, from light pink to deep purplish red was reported. Past medical history was negative with respect to any systemic problem, seizure episodes, any drug intake, trauma or abnormality during pregnancy and delivery. No relevant family history was reported. On extraoral examination a maculo-papular area of deep purplish –red pigmentation was noticed over right middle third of face which was unilateral and not crossing the midline.The rash was extending over the supraorbital region, infra-orbital region including bridge of the nose, malar region of cheek and the supralabial region along with a gross enlargement of right half of the upper lip suggestive of macrochelia [Fig 1]. Patient didn’t report any bleeding, burning sensation, numbness or parasthesia in the pigmented or surrounding areas. Examination of the right eye revealed a visual acuity of no light perception, conjunctival chemosis, episcleral haemangioma with raised intraocular pressure suggestive of glaucoma.[Fig 2]

On palpation, absence of bruit or pulsation was noticed .An intraoral examination revealed erythematous, swollen and edematous gingiva involving the right maxillary arch, which was tender on palpation and soft in consistency and restricted within the midline.[Fig 3]. Similar macular purplish red patch was seen involving the right side of the buccal mucosa [Fig 4] and on hard palate extending to the midline.[Fig 6]. Patient’s oral hygiene was poor and showed chronic generalized periodontitis, spacing with maxillary anteriors and prognathic maxilla.[Fig 3].

A Lateral skull and PA radiograph was advised to find out presence of any tram track gyral calcifications but did not reveal any such changes.[Fig 6 a&b ]. The haemogram of the patient was well within normal limits. Based upon history and clinical appearance a final diagnosis of type II SWS was given. Patient along with her family was educated and made aware about the condition and the possible complications that could arise during the necessary dental procedures. She was prescribed with antibiotics and analgesics course of 5days and advised for oral prophylaxis and extraction with all grossly carious teeth[Fig 7] followed by replacement with fixed prosthesis.

DISCUSSION

According to National Institute of Neurological Disorders and Stroke, SWS is a neurological disorder. It is characterized by a congenital facial birthmark, known as a capillary malformation and other neurological abnormalities. The other symptoms include eye and internal organ irregularities which vary in degree [15]. It has no racial or sex predilection [16].

The most apparent sign of SWS is a birthmark or PWS on the face. The PWS is due to an overabundance of capillaries just beneath the surface of the involved areas. When the port wine stain covers the eye and forehead region of the face, SWS should be considered. In rare instances, SWS is present even in the absence of the PWS [17].

SWS can be cited as comprehensive only when both CNS and facial angiomas are present and is considered to be fragmentary when only one area is affected without the other .It can be classified as complete and incomplete depending on presence of facial and leptomeningeal angioma [18]. Roach developed a scale for classification which is as follows [19].

Type I - Both facial and leptomeningeal angiomas; may have glaucoma

Type II - Facial angioma alone (no CNS involvement); may have glaucoma

Type III - Isolated leptomeningeal angioma; usually no glaucoma.

The oral manifestations include ipsilateral PWS of oral mucosa along with the hypervascular changes. Angiomatous lesions of gingiva which can vary from slight vascular hyperplasia to hemangiomatous proliferation. It is characterized by increase in the vascular component and gingival hemorrhage at minimal trauma [6,19,20].Gingival hyperplasia can also be attributed to anticonvulsant medication and secondary to poor oral hygiene in mentally retarded patients. Macroglossia and maxillary bone hypertrophy have also been reported in a few cases [21].

The ocular complications manifests as glaucoma, vascular malformations conjunctiva, episclera, choroid and retina. This may produce a localized or diffuse pinkish discoloration of the bulbar conjunctiva especially in the limbus zone. [7].

Tram track calcification caused by in opposing gyri, ipsilateral calvarial thickening and enlargement of the paranasal sinuses and mastoid may be visible in skull films. Higher imaging modalities like CT for calcification and MRI for brain assessment can also be used. MRI is the current gold standard for diagnosis of this disease especially in infants [23] .

Differential diagnosis of SWS includes Rendu Osler Weber syndrome, Von Hippel Lindau Disease and Maffucci Syndrome. Diagnosis is made only on the basis of clinical and imaging features [24].

Hereditary hemorrhagic telangiectasia (HHT) or Rendu Osler Weber Syndrome along with positive family history is characterized by the presence Nosebleeds (epistaxis), mucocutaneous telangiectases and visceral arteriovenous malformation (AVM). AVM’s may be pulmonary, cerebral, hepatic, spinal, gastrointestinal and pancreatic. The clinical diagnosis of HHT is considered definite, possible or suspected and unlikely, which depends on the number of findings present[25].

Von Hippel–Lindau disease (VHL) is an autosomal dominantly inherited disorder predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Visceral cysts (renal, pancreatic and epididymal) are common but rarely compromise organ function. Less frequent tumours include adrenal and extra-adrenal pheochromocytomas , non-functioning pancreatic endocrine cancers, endolymphatic sac tumours and occasionally, head and neck paragangliomas [26].

Maffucci syndrome is characterized by benign enlargements of cartilage (enchondromas); bone deformities; and dark, irregularly shaped hemangiomas. There is a tendency for malignant transformation of enchondromas into chondrosarcomas or of hemangiomas into vascular sarcomas. Patients with Maffucci syndrome also are susceptible to the development of other malignant lesions such as glioma [27].

Table no 1. Demonstrates classical clinical manifestations of SWS and of those present in our case. Our patient exhibited characteristic clinical manifestations of Type II SWS including PWS and oral manifestations.

Table 1 POSITIVE MANIFESTATIONS IN THE PRESENT CASE OF SWS

Sr.No	Manifestations seen in SWS	Present case findings
1	EPILEPSY	-
2	PORT WINE STAIN	+
3	ABNORMAL RADIOGRAHIC FINDINGS	-
4	MENTAL RETARDATION	-
5	ORAL MANIFESTATIONS	+
6	HEMIPARESIS	-
7	OCCULAR MANIFESTATIONS	+

Treatment and prognosis of SWS depends on the extent of involvement. PWS can cause severe psychological trauma to the patients and hamper their personality development. PWS can be improved by dermabrasion, tattooing and flash lamp pulse dyed lasers. Various treatment modalities like sclerotherapy, cryotherapy, laser and surgical excision have been tried with varying degrees of success to surmount intraoral lesions [28].

Dental management should be mostly stressed on preventive measures. Patients should be educated, motivated and complied to follow a strict oral hygiene regimen to prevent dental caries and secondary gingival inflammatory enlargement. These patients can undergo endodontic procedure but over instrumentation should be avoided. Gingival hyperplasia has been reported to be successfully managed with CO₂ laser surgery with minimal hemorrhage[29].

It is a challenging task to carry out dental procedures in a SWS patient due to risk of severe intra- and postoperative haemorrhage. Special precautions to keep in mind in order to prevent and treat complications may include hospitalization, application of local anaesthetics with vasoconstrictors, dressings, splints[28]

CONCLUSION

Stupendous scope of clinical manifestations of SWS makes diagnosis a critical task. Patients affected with SWS may or may not exhibit intraoral manifestations. It is crucial for oral health care practitioners’ to have keen and deep rooted knowledge of this rare congenital disorder and exhibit surplus surveillance during routine dental procedures in order to prevent from life’s threatening complication.

Acknowledgement

Special thanks to Dr.Priyanka Vedpathak, Dr. Gaurav Verma, Dr.Manjiri Choudhary, Dr.Apurva Patil, Dr. Akansha Bhandhari, Dr. Kalyani Vaijwade and Dr. Mala Jaisinghani for their valuable contribution.

Disclosure

The authors claim to have no financial interest in any company or any of the products listed in this article.

Conflict of interest :

All authors have none to declare

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A Study by Sonali Banerjee and Mary Mathews N. entitled "Exploring Quality of Life and Perceived Experiences Among Couples Undergoing Fertility Treatment in Western India: A Mixed Methodology" is awarded Best Article for Vol 12 issue 18

A Study by Jabbar Desai et al. entitled "Prevalence of Obstructive Airway Disease in Patients with Ischemic Heart Disease and Hypertension" is awarded Best Article for Vol 12 issue 17

A Study by Juna Byun et al. entitled "Study on Difference in Coronavirus-19 Related Anxiety between Face-to-face and Non-face-to-face Classes among University Students in South Korea" is awarded Best Article for Vol 12 issue 16

A Study by Sudha Ramachandra & Vinay Chavan entitled "Enhanced-Hybrid-Age Layered Population Structure (E-Hybrid-ALPS): A Genetic Algorithm with Adaptive Crossover for Molecular Docking Studies of Drug Discovery Process" is awarded Best article for Vol 12 issue 15

A Study by Varsha M. Shindhe et al. entitled "A Study on Effect of Smokeless Tobacco on Pulmonary Function Tests in Class IV Workers of USM-KLE (Universiti Sains Malaysia-Karnataka Lingayat Education Society) International Medical Programme, Belagavi" is awarded Best article of Vol 12 issue 14, July 2020

A study by Amruta Choudhary et al. entitled "Family Planning Knowledge, Attitude and Practice Among Women of Reproductive Age from Rural Area of Central India" is awarded Best Article for special issue "Modern Therapeutics Applications"

A study by Raunak Das entitled "Study of Cardiovascular Dysfunctions in Interstitial Lung Diseas epatients by Correlating the Levels of Serum NT PRO BNP and Microalbuminuria (Biomarkers of Cardiovascular Dysfunction) with Echocardiographic, Bronchoscopic and HighResolution Computed Tomography Findings of These ILD Patients" is awarded Best Article of Vol 12 issue 13

A Study by Kannamani Ramasamy et al. entitled "COVID-19 Situation at Chennai City – Forecasting for the Better Pandemic Management" is awarded best article for Vol 12 issue 12

A Study by Muhammet Lutfi SELCUK and Fatma entitled "Distinction of Gray and White Matter for Some Histological Staining Methods in New Zealand Rabbit's Brain" is awarded best article for Vol 12 issue 11

A Study by Anamul Haq et al. entitled "Etiology of Abnormal Uterine Bleeding in Adolescents – Emphasis Upon Polycystic Ovarian Syndrome" is awarded best article for Vol 12 issue 10

A Study by entitled "Estimation of Reference Interval of Serum Progesterone During Three Trimesters of Normal Pregnancy in a Tertiary Care Hospital of Kolkata" is awarded best article for Vol 12 issue 09

A Study by Ilona Gracie De Souza & Pavan Kumar G. entitled "Effect of Releasing Myofascial Chain in Patients with Patellofemoral Pain Syndrome - A Randomized Clinical Trial" is awarded best article for Vol 12 issue 08

A Study by Virendra Atam et. al. entitled "Clinical Profile and Short - Term Mortality Predictors in Acute Stroke with Emphasis on Stress Hyperglycemia and THRIVE Score : An Observational Study" is awarded best article for Vol 12 issue 07

A Study by K. Krupashree et. al. entitled "Protective Effects of Picrorhizakurroa Against Fumonisin B1 Induced Hepatotoxicity in Mice" is awarded best article for issue Vol 10 issue 20

A study by Mithun K.P. et al "Larvicidal Activity of Crude Solanum Nigrum Leaf and Berries Extract Against Dengue Vector-Aedesaegypti" is awarded Best Article for Vol 10 issue 14 of IJCRR

A study by Asha Menon "Women in Child Care and Early Education: Truly Nontraditional Work" is awarded Best Article for Vol 10 issue 13

A study by Deep J. M. "Prevalence of Molar-Incisor Hypomineralization in 7-13 Years Old Children of Biratnagar, Nepal: A Cross Sectional Study" is awarded Best Article for Vol 10 issue 11 of IJCRR

A review by Chitra et al to analyse relation between Obesity and Type 2 diabetes is awarded 'Best Article' for Vol 10 issue 10 by IJCRR.

A study by Karanpreet et al "Pregnancy Induced Hypertension: A Study on Its Multisystem Involvement" is given Best Paper Award for Vol 10 issue 09

List of Awardees

A Study by Ese Anibor et al. "Evaluation of Temporomandibular Joint Disorders Among Delta State University Students in Abraka, Nigeria" from Vol 13 issue 16 received Emerging Researcher Award

A Study by Alkhansa Mahmoud et al. entitled "mRNA Expression of Somatostatin Receptors (1-5) in MCF7 and MDA-MB231 Breast Cancer Cells" from Vol 13 issue 06 received Emerging Researcher Award

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Hemorrhagic risks associated with dental procedure in a rare case of Type II Sturge weber syndrome

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