TNOA Journal of Ophthalmic Science and Research

: 2020  |  Volume : 58  |  Issue : 2  |  Page : 109--111

Phakomatosis pigmentovascularis with sturge–Weber syndrome

Premanand Chandran, Snehal D Raut, Nithya Ramasamy, Ganesh V Raman 
 Department of Glaucoma, Aravind Eye Hospital, Coimbatore, Tamil Nadu, India

Correspondence Address:
Dr. Premanand Chandran
Aravind Eye Hospital, Avinashi Road, Coimbatore - 641 014, Tamil Nadu


An 11-year-old boy presented with port-wine stain on the right side of the face and pigmentation of the sclera and iris in the left eye (LE). Fundus examination revealed inferior rim excavation of disc with orangish red tomato ketchup appearance of background retina suggestive of diffuse choroidal hemangioma in the right eye (RE) and normal retina in the LE. Ultrasonography showed increased thickness of retinochoroidal scleral complex, and swept-source optical coherence tomography showed choroidal thickening in the RE. He was diagnosed to have phakomatosis pigmentovascularis (PPV) with Sturge–Weber syndrome and glaucoma. PPV is a rare congenital disorder characterized by the presence of capillary malformation and pigmentary nevi. PPV can present with or without systemic involvement. Those without systemic involvement need to be followed up closely as they can manifest later in life.

How to cite this article:
Chandran P, Raut SD, Ramasamy N, Raman GV. Phakomatosis pigmentovascularis with sturge–Weber syndrome.TNOA J Ophthalmic Sci Res 2020;58:109-111

How to cite this URL:
Chandran P, Raut SD, Ramasamy N, Raman GV. Phakomatosis pigmentovascularis with sturge–Weber syndrome. TNOA J Ophthalmic Sci Res [serial online] 2020 [cited 2021 Oct 20 ];58:109-111
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Full Text


Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous disorder characterized by the presence of capillary malformation along with pigmentary nevus of various types. About 200 cases of PPV have been reported worldwide, mostly from the Japanese population.[1] To our knowledge, only 15 cases have been reported from India.[2],[3],[4],[5],[6] We report a case of ocular melanocytosis, Sturge–Weber syndrome, and glaucoma in a young boy.

 Case Report

An 11-year-old boy was referred for opinion regarding pink macular lesion on the right side of the face with glaucoma. He was on timolol 0.5% and dorzolamide 2% eye drops in the right eye (RE) for 1 year. There was no history of parental consanguinity or similar illness in the family. On external examination, there was port-wine stain on the right side of the face with hypertrophy, and slate-gray pigmentation of the sclera in the left eye (LE) and the lower part of the cheek on the left side of the face [Figure 1]. His best-corrected visual acuity in the RE and LE was 1/60 and 6/6, respectively. On slit-lamp biomicroscopy, the anterior segment of the RE was normal except for iris sphincter atrophy at 11'o clock and the LE showed clear cornea, grayish pigmentation of the episclera, deep anterior chamber, hyperpigmented iris, and clear lens [Figure 2]a and b]. His intraocular pressure (IOP) was 17 mmHg in both eyes. On gonioscopy, the RE had open angles with no evidence of blood in Schlemm's canal and the LE had open angles with increased trabecular meshwork pigmentation. His central corneal thickness was 590 μm in the right and 581 μm in the left. Fundus examination showed a cup-to-disc ratio (CDR) of 0.55:1 with inferior rim excavation, circumferential subretinal fibrosis nasal to disc, and orangish red tomato ketchup appearance of background retina suggestive of diffuse choroidal hemangioma in the RE and CDR of 0.5:1 with healthy neuroretinal rim and normal retina in the LE [Figure 2]c and [Figure 2]d.{Figure 1}{Figure 2}

Ultrasonography showed an increased thickness of retinochoroidal scleral complex (3.4 mm) in the RE. Swept-source optical coherence tomography of the RE showed choroidal thickening [Figure 2]e. Magnetic resonance imaging (MRI) of the orbit showed hemangioma on the medial aspect of the right orbit, and MRI of the brain was normal. He was advised to continue the same antiglaucoma medications in the RE as his IOP was under control.


The coexistence of cutaneous hemangioma and pigmentary nevi was termed PPV in 1947.[7] The association of Sturge–Weber syndrome with nevus of Ota is an infrequently reported phenomenon, and there are only few previously described cases in the literature. It was classified by Hasegawaet al. into four types according to the pigmentary lesion associated with nevus flammeus.[8] Each type was further divided into (a) localized (cutaneous) or (b) systemic on the basis of the presence or absence of systemic involvement. In 2005, Happle simplified and reclassified the condition into four types, utilizing descriptive terms.[9] Phakomatosis cesioflammea or Type II is the most common type, related or not to systemic involvement. Sturge–Weber syndrome and Klippel–Trenaunay syndrome individually or combined were the most common systemic association found in PPV.[10]

Our patient had PPV Type IIa, comprising nevus flammeus (capillary malformation) and aberrant Mongolian spots, along with Sturge–Weber syndrome Type II (facial angioma and ocular involvement without intracranial disease), secondary glaucoma, and amblyopia in the RE. Sturge–Weber syndrome is associated with ipsilateral glaucoma in up to 50% of patients. Glaucoma occurs in infancy or childhood if there is associated developmental anomaly of the anterior chamber angle or in adults due to elevated episcleral venous pressure. Oculodermal melanocytosis is associated with glaucoma in 10% of patients due to melanocytic infiltration of the angle leading to increased aqueous outflow resistance.[11] IOP and disc in the LE were normal, but need to be followed up regularly, as he can develop glaucoma later.

The etiopathogenesis of PPV is unknown, but it has been proposed to be neural crest disorder. Didymosis (twin-spotting phenomenon) is the accepted genetic model for PPV, characterized by two areas of adjacent cutaneous lesions, and formed by mutant tissues which also differ from normal surrounding tissue. Oculodermal melanocytosis is due to aberrant migration of neural crest-derived melanocytes. In Sturge–Weber syndrome, the developmental anomaly of the neural crest-derived vasomotor nerves resulted in altered sympathetic modulation of vascular tone, leading to progressive vascular ectasia.[10],[11],[12]

PPV has a benign course in patients without systemic involvement; however, these patients need to be followed up since systemic manifestation can become evident with time, changing the prognosis of the disease.[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.

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Conflicts of interest

There are no conflicts of interest.


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