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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 32  |  Issue : 3  |  Page : 303-307

Birthmark: Journey from aesthetic to unalluring


1 Department of Oral Medicine and Radiology, RKDF Dental College and Research Centre, Bhopal, Madhya Pradesh, India
2 Department of Oral and Maxillofacial Surgery, Index Institute of Dental Sciences, Indore, Madhya Pradesh, India

Date of Submission16-Jan-2020
Date of Decision10-Jun-2020
Date of Acceptance12-Jun-2020
Date of Web Publication29-Sep-2020

Correspondence Address:
Dr. Sakshi Sharma
Flat No -103, RKDF Campus, SRK University, NH-12 Misrod, Bhopal, Madhya Pradesh - 462 026
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_9_20

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   Abstract 


Encephalotrigeminal Angiomatosis, also known as Sturge Weber Syndrome (SWS), Dimitri disease, Sturge Kalischer Weber Syndrome is specifically non familial, congenital rare disorder consisting of hamartomatous malformations that may affect eye, skin, and CNS. Failure of proper vascular development is believed to be the most likely cause of the condition. The malformed blood vessels may lead to port wine stains, epilepsy, and glaucoma depending on its location. We are presenting here a triad of case reports on Sturge Weber Syndrome representing individuals belonging to varied age groups.

Keywords: Angiofibromas, encephalotrigeminal Angiomatosis, neurocutaneous, portwine stain, SWS, tram- track calcifications


How to cite this article:
Sharma S, Hada P, Singh V, Singh M. Birthmark: Journey from aesthetic to unalluring. J Indian Acad Oral Med Radiol 2020;32:303-7

How to cite this URL:
Sharma S, Hada P, Singh V, Singh M. Birthmark: Journey from aesthetic to unalluring. J Indian Acad Oral Med Radiol [serial online] 2020 [cited 2020 Oct 30];32:303-7. Available from: https://www.jiaomr.in/text.asp?2020/32/3/303/296595




   Introduction Top


With the assortment of different signs and symptoms, Encephalotrigeminal Angiomatosis is an infrequent and scattered congenital group of disorders collectively known as phakomatosis that is, mother spot/birthmark.[1] The color of birthmark can vary from pink to deep purple depending upon the plethora of capillaries. The entity was first described by Schirmer in 1860 and later by Sturge in 1879. Weber and Dimitri in 1922 were credited for roentgenographic evidence of intracranial calcification.[2]

It is an atypical disorder occurring with the frequency of 1: 50,000 live birth affecting both sexes equally with no racial predilections. This neurocutaneous disease is portrayed by leptomeningeal angiomas extending to the cerebral cortex with homolateral facial portwine stains or facial nevus with the involvement of either of the three divisions of trigeminal nerves as well as epileptic convulsions.[3],[4]

Encephalotrigeminal Angiomatosis is of three types[5]:

  1. Complete trisymptomatic when all the three organs—eyes, skin, and CNS are involved.
  2. Incomplete bisymptomatic when involvement is either oculocutaneous or neurocutaneous
  3. Incomplete monosymptomatic—only neural or cutaneous involvement.


Also, the oral manifestations of disease are noteworthy and represented by hemangiomatous lesions in the maxillary or mandibular gingiva, lips, tongue, and palatine region. In gingiva, these lesions are present as unilateral hyperplasia due to an increased vascular component and demonstrate bleeding following trauma.

We are hereby presenting a case series of three exemplary cases of SWS with certain atypical findings.


   Case Reports Top


Case 1

A 50-year-old male reported to the Department of Oral Medicine and Radiology, with the chief complaint of the mobility of teeth in his lower right back teeth region for 1 year. On extraoral examination, a diffuse reddish-purple patch of discoloration that is, port wine stains were present bilaterally involving ophthalmic, maxillary, and mandibular divisions of the trigeminal nerve. Along with this, multiple angiofibromas were present on the face measuring approximately 0.5 mm to 2 mm in size. Lips were edematous and discolored with similar patches present in the sternal region too [Figure 1].
Figure 1: Front profile (case 1)

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On further questioning, the patient revealed the history of epileptic convulsions for which he had been on medication for 20 years and had discontinued the medication for 1 year.

Intraorally, on inspection, a diffuse reddish patch of discoloration (Port wine stain) was present on the left side of the hard palate, tongue, and floor of the mouth. On palpation, it was non pulsatile and non tender. No ulceration was present on overlying mucosa. Periodontal status of the patient was compromised due to the presence of generalized grade III mobility, gingival recession, and periodontal pockets [Figure 2] and [Figure 3].
Figure 2: PWS present on left ventral surface of tongue

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Figure 3: PWS present on hard palate

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The patient was advised hematological and radiographic investigations. His complete blood count, bleeding time, and clotting time were within a normal range. OPG of the patient revealed generalized bone loss [Figure 4](a)]. Computed tomography scan with contrast revealed “tram track” gyriform calcifications in the right lateral temporal and parietal lobe with mild temporal atrophy. Findings were suggestive of possible phakomatosis like SWS [Figure 4](b)].
Figure 4:(a): OPG showing generalized bone loss. (b): CT Scan showing gyriform calcifications

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Contrast - enhanced computed tomography of the face showed lobulated enhancing subcutaneous soft tissue lesions in the left half of lower lip and median part of the upper lip with arterial supply and venous drainage from branches of facial vessels on left side suggestive of hemangiomas.

The patient's history, clinical examination findings, and radiographic features confirmed the diagnosis of SWS (Type II) with bilateral involvement.

Case 2

Parents of a 4-year-old girl visited the Department of Oral Medicine and Radiology raising concern regarding the aesthetic appearance of their daughter. While recording the case history, her father revealed that she was born with a small reddish-purple patch on her face which gradually increased in size. Her past medical history and family history was non-contributory. The hematological examination was done to rule out thrombocytopenia. She was born full-term following uneventful birth events. On physical examination, well demarcated port wine stains were noticed covering the entire scalp, face, neck, chest, and right hand [Figure 5] and [Figure 6]. Well defined, solitary angiofibroma was present on the left commissural area of the lip. On palpation, the lesion was non pulsatile and non tender. Hypertrophy of gingiva was seen in the premaxilla region with malaligned anteriors [Figure 7]. Ophthalmic examination was performed which showed no abnormality.
Figure 5: Front profile (case 2)

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Figure 6: Extremities showing PWS present on the left hand

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Figure 7: Angiofibroma and hypertrophy of premaxilla

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Computed tomography scan revealed the absence of cerebral calcifications [Figure 8]. Hence based on the above findings, a diagnosis of SWS (Type III) with the involvement of extremities was reached upon.
Figure 8: No abnormality detected on CT Scan

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Case 3

A 60-year-old female came with the chief complaint of pain in her upper left back teeth region for 6 months. On clinical examination unilateral, well-defined port-wine stain was present involving ophthalmic and maxillary division of trigeminal nerve on the left side of the face. Multiple angiofibromas of varying size ranging from approximately 1 to 2.5 mm were present involving the left side of the face. The upper lip was edematous [Figure 9].
Figure 9: Front profile (case 3)

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Intraoral examination revealed unilateral involvement of the hard palate and vestibular region [Figure 10]. On hard tissue examination, grade III mobility was present with respect to 26. The patient's past medical history regarding epileptic convulsions was not significant. True lateral skull revealed no positive findings regarding calcifications [Figure 11], and the patient was advised for further specialized investigations but the patient refused for the same. Based on the history and clinical findings, the patient was diagnosed as SWS (Type III).
Figure 10: PWS involving left vestibule and palate

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Figure 11: True lateral skull showing no calcifications

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Some of the exclusion criteria of SWS for all the three cases which can be considered are Rendu-Osler-Weber syndrome where epistaxis is a common finding which was absent in our cases, Kasabach-Merritt syndrome shows thrombocytopenia which was also absent in all the three cases, Arterio- Venous malformation is often associated with progressive loss of neurological function, paralysis, and weakness in muscles. All these symptoms were not seen in our cases.


   Discussion Top


Encephalotrigeminal angiomatosis is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. It occurs sporadically and is caused by a somatic mutation in the gene GNAQ on chromosome 9q21.[6] This gene provides instructions for making a protein called guanine nucleotide binding protein G (q) subunit alpha (Gαq). The Gαq protein is a part of a group of proteins that regulates signaling pathways to help control the development and function of blood vessels. The GNAQ gene mutation that causes SWS results in the production of a protein with impaired function which causes the abnormal and excessive formation of vessels before birth.[7],[8]

The hallmark of the disease is leptomeningeal angiomas quintessentially tends to involve ipsilateral lobes or even extending to involve contralateral cerebral hemisphere as diagnosed in our first case.[9],[10] The similar findings were reported by Higueros E et al.[11] that mutation of the GNAQ gene is responsible for SWS and it is characterized by port-wine stain and leptomeningeal angiomatosis. Age of being clinically getting symbolic for SWS is highly variable spanning from immediately after birth up to the older age group as reported in our triad of cases where we had encountered two extremities of age group. Kashinathan A et al.[12] presented a case report of a 3-year-old child with global developmental delay, abnormal craniofacial growth, and left focal seizures since infancy. The age of the patient in our second case was 4 years but no history of seizures was reported by the parents.

The most common neurological manifestation of this disease is focal motor seizures where the patients have uncontrollable seizures which may eventually lead to motor deficits and mental retardation.[5] Salim S et al.[13] reported a case of a 32-year-old man with SWS who was treated for epilepsy for 29 years having a large and purple angiomatous lesion over the right half of the face in the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve. In case 1 reported here, the patient was under medication for epileptic convulsions for 20 years and had discontinued it 1 year back.

Neerupakam M et al.[14] reported a case of an 18-year-old girl showing the presence of Port Wine Stain on the right side of face along with the ophthalmic and maxillary divisions of the trigeminal nerve, involving lips and vermilion border of lips of the same side. Examination of the eye showed an enlarged globe of the right eye with bluish discoloration of the bulbar conjunctiva, decreased vision, and glaucoma. None of the patients in our case had glaucoma.

Medical care in SWS includes anti-epileptic medication for seizures control, symptomatic, and prophylactic therapy for glaucoma treatment to reduce intra- ocular pressure and laser therapy for port-wine stain. Surgery may be considered in patients who failed medical management and continued to have refractory seizures. Surgical procedures include hemispherectomy or focal resection of the seizure focus.[6] Apart from this, the presence of facial nevus gives an unaesthetic appearance and unacceptance in the society.

Facial nevus becomes a cosmetic problem and can be treated with plastic surgery.[6] Other treatment modalities include dermabrasion, tattooing, pulsed diode laser therapy resulting in partial or complete gradual fading of stains.[7]

In respect to the above mentioned extraoral presentation of SWS, oral manifestation holds a great importance too. These intraoral findings are found in 38% of the cases.[5] Our cases too had oral manifestations which include hemangiomatous lesion on palate, gums, tongue, lips, and oral mucosa. The oral manifestations are generally unilateral and decline abruptly in the middle line.

There is no specific treatment for SWS. Oral rehabilitation of patients with SWS is a multidisciplinary process requiring initial conservative management and later surgery.[8] Initial management of the lesion includes Intra-lesional injections with sodium tertradecyl sulphate and thorough plaque control regimen.[7],[8] Treatment of SWS may vary according to the symptoms present in a patient such as anticonvulsant drugs, aspirin, eye drops, laser therapy, and cosmetic rehabilitation. Lance et al.[15] reported the clinical experience over the past decade in 60 children with Sturge-Weber syndrome, and showed that low-dose aspirin was safely given to infants as young as 1 month of age. Subdural and subgaleal hematomas are rarely reported both on and off low-dose aspirin.

Comi AM[16] reviewed the current treatment of SWS with a focus on therapeutic options both conventional and more controversial. The review states that the current goal is to develop new treatments, which both ameliorate or reverse the symptoms of those patients already affected by the disease, and to prevent the symptoms of those who have yet to manifest clinical course progression. To achieve this goal the following efforts are needed: (1) to continue to create safe screening methods to detect presymptomatic brain and eye involvement, (2) to develop geneticin vitro and animal models of SWS for the screening of novel drug treatments, and (3) to perform new Phase I-II clinical trials to study the safety and possible efficacy of the new treatment strategies based on our growing understanding of the pathophysiology.

The most important safety measure which should be considered is that during any surgical procedure performed in the oral cavity, achieving hemostasis is a significant problem. Post-surgical bleeding can be controlled by pressure provided by splints and injection of the anesthetic solution with vasoconstrictors in the surgical sites which ensures safe dental procedures in patients with SWS. [9,10] Hence all three patients were referred to Chirayu Medical College and Hospital for further treatment.


   Conclusion Top


In this case series, we emphasize that the management of patients with SWS may be challenging due to the risk of hemorrhage. Caution must be taken when performing surgical procedures in the affected areas of the mouth. Comprehensive treatment along with behavior management in addition to drug treatment can provide help to patients and their families to overcome their problems and ameliorate the treatment outcome.[10]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Sener RN. Sturge-Weber syndrome: A patient with a cervical port-wine nevus. Comput Med Imaging Graph 1997;21:359-60.  Back to cited text no. 1
    
2.
Maria BL, Neufeld JA, Rosainz LC. Central nervous system structure and function in Sturge-Weber syndrome: Evidence of neurologic and radiologic progression. J Child Neurol 1998;13:606-18.  Back to cited text no. 2
    
3.
Comi AM, Weisz CJ, Highet BH. Sturge-Weber syndrome: Altered blood vessel fibronectin expression and morphology. J Child Neurol 2005;20:572-7.  Back to cited text no. 3
    
4.
Khambete N, Risbud M, Kshar A. Sturge-Weber syndrome: A case report. Int J Dent Clin 2011;3:79-81.  Back to cited text no. 4
    
5.
Neville BW, Damm DD, Allen CM, Bouquot JE, editors. Oral and Maxillofacial Pathology. 3rd ed.. St. Louis: Elsevier; 2009.  Back to cited text no. 5
    
6.
Mukhopadhyay S. Sturge-Weber syndrome: A case report. J Indian Soc Pedod Prev Dent 2008;26:S29-31.  Back to cited text no. 6
    
7.
Panuska HJ. Surgical excision of intraoral hemangioma in Sturge-weber syndrome; Report of a case. Oral Surg Oral Med Oral Pathol 1965;19:575-80.  Back to cited text no. 7
    
8.
Yukna RA, Cassingham RJ, Carr RF. Peridontal manifestations and treatment in a case of Sturge-Weber syndrome. Oral Surg Oral Med Oral Pathol 1979;47:408-15.  Back to cited text no. 8
    
9.
Hoffman HJ, Hendrick EB, Dennis M, Armstrong D. Hemispherectomy for sturge-weber syndrome. Childs Brain 1979;5:233-48.  Back to cited text no. 9
    
10.
Neto FX, Junior MA, Ximenes LS, Jacob CC, Junior AG, Palheta CP, et al. Clinical features of Sturge-Weber syndrome. Ark Int Otorrinolaringol 2008;12:565-70.  Back to cited text no. 10
    
11.
Higueros E, Roe E, Granell E, Baselga E. Sturge- Weber syndrome: A review. Actas Dermosifiliogr2017;108:407-17.  Back to cited text no. 11
    
12.
Kasinathan A, Saini AG, Vyas S, Singhi P. Angiodysplastic Sturge Webersyndrome.BMJ Case Rep 2018:bcr2017222869. doi: 10.1136/bcr-2017-222869.  Back to cited text no. 12
    
13.
Salim S, BouhelabJ, Hassam B. Sturge-Weber syndrome: A diagnosis not to be ignored. Clin Med Int Lib 2018;4:092.  Back to cited text no. 13
    
14.
Neerupakam M, Reddy PS, Babu BA, KrishnaGV. Sturge Weber syndrome: A case study.J Clin Diagn Res2017;11:ZD12-4.  Back to cited text no. 14
    
15.
LanceEI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM. Aspirin use in Sturge-Weber syndrome: Side effects and clinical outcomes. J Child Neurol 2018;28:213-8.  Back to cited text no. 15
    
16.
Comi AM. Presentation, diagnosis, pathophysiology and treatment of the neurologic features of Sturge-Weber syndrome. Neurologist 2011;17:179-84.  Back to cited text no. 16
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11]



 

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