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 Table of Contents  
BRIEF COMMUNICATION
Year : 2017  |  Volume : 5  |  Issue : 2  |  Page : 91-93

A case report of phakomatosis pigmentovascularis


1 Department of Oculoplasty and Glaucoma, C. H. Nagri Eye Hospital, Ahmedabad, Gujarat, India
2 Oculoplastic Surgeon, Solapur, Maharashtra, India
3 Netralaya the Eye Associates, Ahmedabad, Gujarat, India

Date of Submission05-Mar-2015
Date of Acceptance03-Jan-2017
Date of Web Publication25-Apr-2017

Correspondence Address:
Rushik B Patel
B/39, C. P. Nagar, Part-1, Bhuyangdev Cross Roads, Ahmedabad - 380061, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2320-3897.205183

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  Abstract 

The Sturge-Weber syndrome consists of unilateral port wine hemangioma of skin along the trigeminal distribution associated with an ipsilateral leptomeningeal angioma. Nevus of Ota (oculodermal melanosis) is a hamartoma of dermal melanocytes which presents as a blue or gray patch on the face and conjunctiva, which is congenital or acquired and is within the distribution of the branches of the trigeminal nerve. The coexistence of cutaneous hemangioma and pigmentary naevi is known as phakomatosis pigmentovascularis. We report the first case of phakomatosis pigmentovascularis in the Indian literature.

Keywords: Nevus of Ota, phakomatosis pigmentovascularis, Sturge-Weber syndrome


How to cite this article:
Trivedi NV, Vhankade RA, Patel RB. A case report of phakomatosis pigmentovascularis. J Clin Ophthalmol Res 2017;5:91-3

How to cite this URL:
Trivedi NV, Vhankade RA, Patel RB. A case report of phakomatosis pigmentovascularis. J Clin Ophthalmol Res [serial online] 2017 [cited 2020 Jun 6];5:91-3. Available from: http://www.jcor.in/text.asp?2017/5/2/91/205183

The Sturge-Weber syndrome consists of unilateral port wine hemangioma of skin along the trigeminal distribution associated with an ipsilateral leptomeningeal angioma. Nevus of Ota (oculodermal melanosis) is a hamartoma of dermal melanocytes. The coexistence of cutaneous hemangioma and pigmentary naevi was termed phakomatosis pigmentovascularis. To best of our knowledge, this is the first case report of phacomatosis pigmentovascularis from the Indian subcontinent.


  Case Report Top


A 28-year-old female presented with dimness of vision in both eyes (BE) for 6 months. She was found to have an asymptomatic erythematous lesion on the left side of the upper part of the face since birth and also had grayish discoloration of the right side of face and eye. There was no family history of neurocutaneuos disease. The patient gave a history of convulsions periodically since the age of 6 months. She was on tablet valproic acid 300 mg BD.

On examination, the patient was found to be with low normal intelligence levels (80–89), with a port wine stain on the left side of the forehead and nose. Melanosis was present over conjunctiva, sclera, iris of the right eye (RE) and right side of the face (nevus of Ota) [Figure 1]. Best corrected visual acuity of RE was 20/20 and of the left eye (LE) was 20/30. Intraocular pressure with Goldmann applanation tonometer was 24 mmHg and 26 mmHg in RE and LE, respectively. The corneal diameters of the BE were 11.5 mm vertically and 12 mm horizontally. Gonioscopy showed open angle Grade IV with trabecular meshwork hyperpigmentation in BE. The distinct red glow was noted in LE on distant direct ophthalmoscopy [Figure 1].
Figure 1: Port wine stain on the left side with nevus of Ota on the right side of the face

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On fundus examination, both optic discs were normal with normal cup-disc ratio and dull foveal reflex without any retinal nerve fiber defect. A tomato catsup appearance was seen in LE suggestive of choroidal hemangioma [Figure 2].
Figure 2: (a) Right eye fundus, (b) right eye fundus, (c) left eye fundus, (d) left eye fundus

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LE B-scan showed diffuse choroidal thickening. FFA showed lobular early filling with late diffuse staining in LE with normal findings in RE [Figure 3].
Figure 3: (a) Left eye fundus fluorescein angiography early phase, (b) left eye fundus fluorescein angiography late phase

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BE visual field showed contralateral (right-sided) incongruous homonymous hemianopia.

Computed tomography scan revealed areas of calcifications involving left cerebral hemisphere in frontal and parietooccipital region [Figure 4]. Magnetic resonance imaging showed unilateral atrophy in the left cerebral hemisphere.
Figure 4: Computed tomography scan brain showing calcification in parietooccipital region

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  Discussion Top


The Sturge-Weber syndrome consists of unilateral port wine hemangioma of skin along the trigeminal distribution associated with an ipsilateral leptomeningeal angioma.[1],[2] Glaucoma or ocular hypertension is seen in about half of the cases. The distribution of the port wine stain is of clinical importance in determining whether an affected child has an increased likelihood of having an eye or central nervous system involvement. Seizures, reflecting the presence of leptomeningeal angioma, are most likely to be present if the port wine stain involves the V1 area for the branches of fifth cranial nerve and other areas of the face. Those patients who develop glaucoma in association with a port wine stain have at least the V2 area involved. The central nervous system vascular malformation is often confined to pial vessels in occipital area. The slow flow of blood through the malformed leptomeningeal vessels leads to progressive hypoxic injury, encephalomalacia, subsequent atrophy, calcification in the cerebral cortex. These changes may result in seizure, intellectual impairment, less often contralateral hemiparesis.[3] The most frequent ocular vascular anomaly associated with this syndrome is choroidal hemangioma.[1]

Nevus of Ota is a hamartoma of dermal melanocytes. Clinically, nevus of Ota presents as a blue or gray patch on the face and conjunctiva, which is congenital or acquired and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve.[4] The nevus can be unilateral or bilateral, and it may involve ocular and oral mucosal surfaces.

The coexistence of cutaneous hemangioma and pigmentary naevi was termed phakomatosis pigmentovascularis by Ota et al. in 1947.[4] Hasegawa and Yasuhara have classified these forms into four types and further divided into (a) localized (cutaneous) or (b) systemic on the basis of the presence or absence of systemic involvement in 1993.[5]

Classification of phakomatosis pigmentovascularis.[5]



The patient described in our report can be classified as type IIB.

Phakomatosis pigmentovascularis is very uncommon condition. To best of our knowledge, only six similar cases have been previously described in the literature. The present case appears to be the first reported case in the Indian literature with Phakomatosis pigmentovascularis with ocular findings of Sturge-Weber syndrome. RE was showing raised intraocular tension in the absence of port wine stain on that side suggest ocular hypertension as seen in 10% of cases of nevus of Ota.[2] Patients with Sturge-Weber syndrome have higher chances of glaucoma if maxillary division of trigeminal (V2) area of the face is involved but in this case, V2 was showing no involvement still patient is having ocular hypertension.[6] Most of the cases presented in literature have port wine stain and nevus of Ota on the same side. In this case, the two lesions are on opposite sides. Bilateral visual fields showed contralateral incongruous homonymous hemianopia which is explainable on the basis of left-sided parietooccipital calcification with atrophic visual cortex [Figure 4].

Recent studies showed that the embryo-pathogenesis of the skin, leptomeninges, choroid and brain lesions of Sturge-Weber syndrome can be explained by a malformation of the primordial vascular system.[7] The hyperpigmentation of the skin, episclera, and uvea in nevus of Ota is thought to be a result of a developmental abnormality in the melanocytes.[8]

Immunohistochemical studies have shown that perivascular nerves were present in port wine stains associated with phakomatosis pigmentovascularis.[9] Hence, it has been postulated that the functional disorders of vasomotor nerve cells and abnormal melanocytes, which originate in the embryonal neural crest leads to the association of pigmentary and vascular naevi.[10] The pathogenetic mechanism becomes more complicated where there is systemic involvement (Type b) as not all sites of origin can be attributed to the neural crest.

Further investigation into the molecular biology of neural crest development and angiogenesis of the central nervous system is warranted to determine the etiology of these coexisting neuro-oculo-cutaneous disorders.

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.
Sturge WA. A case of partial epilepsy, apparently due to a lesion of one of the vaso-motor centers of brain. Trans Clin Sos Lond 1997;12:162-7.  Back to cited text no. 1
    
2.
Krabbe KH. Facial and meningeal angiomatosis associated with calcification of brain cortex. Arch Neural Psychiat (Chicago) 1934;32:737-55.  Back to cited text no. 2
    
3.
Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992;39:591-620.  Back to cited text no. 3
    
4.
Ota M, Kawanura T, Ito N. Phakomatosis pigmentovascularis (Ota). Jpn J Dermatol 1947;52:1-3.  Back to cited text no. 4
    
5.
Hasegawa Y, Yasuhara M. Phakomatosis pigmentovascularis type IIIb. J Am Acad Dermatol 1993;29:305-7.  Back to cited text no. 5
    
6.
Lee H, Choi SS, Kim SS, Hong YJ. A case of glaucoma associated with Sturge-Weber syndrome and Nevus of Ota. Korean J Ophthalmol 2001;15:48-53.  Back to cited text no. 6
    
7.
Gomez MR, Bebin EM. Sturge-Weber syndrome. In: Gomez MR, editor. Neurocutaneuous Disease. Stoneham, MA: Butterworth; 1987. p. 871-5.  Back to cited text no. 7
    
8.
Teekhasaenee C, Ritch R, Rutnin U, Leelawongs N. Ocular findings in oculodermal melanocytosis. Arch Ophthalmol 1990;108:1114-20.  Back to cited text no. 8
    
9.
Smoller BR, Rosen S. Port-wine stains. A disease of altered neural modulation of blood vessels? Arch Dermatol 1986;122:177-9.  Back to cited text no. 9
    
10.
Recupero SM, Abdolrahimzadeh S, De Dominicis M, Mollo R. Sturge-Weber syndrome associated with naevus of Ota. Eye (Lond) 1998;12(Pt 2):212-3.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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