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Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 64-66

Phacomatosis cesioflammea with bilateral diffuse choroidal hemangioma

Bhagwan Mahavir Vitreo Retina Services, Sankara Nethralaya, Chennai, Tamil Nadu, India

Date of Submission02-Apr-2020
Date of Acceptance17-Jul-2020
Date of Web Publication31-Dec-2020

Correspondence Address:
Dr. Pukhraj Rishi
Sankara Nethralaya, Medical Research Foundation, 18 College Road, Chennai - 600 006, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_803_20

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Keywords: Diffuse choroidal hemangioma, Klippel-Trenaunay syndrome, Nevus flammeus, Nevus of Ota, ocular melanocytosis, Phacomatosis cesioflammea, varicose veins

How to cite this article:
Shwetha B, Rishi P. Phacomatosis cesioflammea with bilateral diffuse choroidal hemangioma. Indian J Ophthalmol Case Rep 2021;1:64-6

How to cite this URL:
Shwetha B, Rishi P. Phacomatosis cesioflammea with bilateral diffuse choroidal hemangioma. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Feb 26];1:64-6. Available from: https://www.ijoreports.in/text.asp?2021/1/1/64/305540

An 18-year-old male presented with sudden diminution of vision in right eye of 3 months duration with gradual worsening. Examination revealed large port wine marks on forehead (bilateral), right side of face, neck, chest and right upper limb [Figure 1]. Patches of port wine stain are also noted on left side of nose, cheek, neck and chest. Mild facial hemi-hypertrophy was noted on right side. Bluish pigmented macules were noted on hard palate (bilateral) with capillary malformation on right side of hard palate. Dilated and tortuous veins were noted on both lower limbs, right more than left. Lower limb venous Doppler study done elsewhere confirmed bilateral varicose veins for which he underwent foam sclerotherapy in right lower limb in recent past. No significant limb length discrepancy was noted. Magnetic Resonance Imaging (MRI) of the brain did not reveal any evidence of arteriovenous (AV) malformation or intracranial lesions.
Figure 1: External photograph reveals extensive port wine mark predominantly involving the right face with hemi-hypertrophy, chest, and upper limb (a). Dilated tortuous veins seen on right thigh (b) with pressure stockings on both lower limbs. Ocular melanocytosis is seen in right eye (c). Bluish hyper-pigmentation on both sides of anterior hard palate and capillary malformation on right posterior hard palate (d)

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Best corrected visual acuity (BCVA) was 20/400 in right eye (OD) and 20/20 in the left eye (OS). In OD, bluish, patchy hyperpigmentation (sectoral ocular melanocytosis) was noted on the sclera. In OS, anterior segment examination was normal. Intraocular pressure (IOP) was 15 mm Hg in both eyes (OU) and gonioscopy revealed open angles with no abnormal pigmentation or blood in Schlemm's canal. On indirect ophthalmoscopy, diffuse, orange-red mass lesion was noted at the posterior pole in OU with exudative retinal detachment in OD [Figure 2]. Swept-Source Optical Coherence Tomography (SS-OCT) showed neurosensory detachment at macula with intra-retinal cystic spaces in OD and normal foveal contour in OS [Figure 3]. Ultrasound B scan revealed diffuse choroidal thickening in OU with high surface reflectivity and homogenous medium-to-high internal reflectivity without acoustic hollowing or choroidal excavation, suggestive of choroidal hemangioma and retinal detachment in OD [Figure 2]. He was advised treatment with low-dose external beam radiotherapy (EBRT).
Figure 2: Wide-field (Optos) fundus photograph (a) and autofluorescence images (b) of right eye and left eye (d and e) reveal retinal detachment in right eye. Ultrasound B scan of right eye (c) shows diffuse choroidal haemangioma with retinal detachment. Ultrasound B scan of left eye (f) shows diffuse choroidal haemangioma. It is noticeable that the pseudo color photos do not show the orange color of the lesion well

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Figure 3: SS-OCT of right eye (a) shows elevated choroidal contour (arrows) with no compression of choriocapillaris, neurosensory detachment (asterisk) with intra-retinal cystoid spaces (star) at fovea, left eye (b) shows mild elevated choroidal contour (no compression of choriocapillaris) with normal foveal contour

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  Discussion Top

Phacomatosis cesioflammea (PC), earlier called as Phacomatosis pigmentovascularis (PPV) Type II is a rare condition characterized by the coexistence of dermal melanocytosis (Mongolion spot or Nevus of Ota) and nevus flammeus.[1] Our case has systemic association in the form of Klippel-Trenaunay syndrome (KTS), which manifests as a triad of capillary malformations, congenital varicose veins, and hypertrophy of underlying tissue.[2] Management of diffuse choroidal hemangioma depends on the mechanism of visual loss. Visual loss can be due to subretinal fluid leakage, intraretinal edema, tumor induced hyperopia and long-standing amblyopia related to macular location of the tumor. Various treatment options include EBRT,[3] (1250-2000 cGy in divided fractions), plaque brachytherapy and photodynamic therapy.

Overlap of syndromes PPV,  Sturge- Weber syndrome More Details More Details (SWS), and KTS was described in literature.[4],[5] While there have been very few case reports of association of KTS with PC, we report a rare case of such association manifesting with bilateral diffuse choroidal hemangioma and unilateral exudative retinal detachment. Patients with PPV are at a higher risk for uveal melanoma.[6] Careful follow-up is warranted to allow for prompt detection and intervention that may result in life salvage, globe salvage, and better visual outcomes.

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.

  References Top

Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol 2005;141:385-8.  Back to cited text no. 1
Talwar S, Jha PK, Suresh MS, Panvelkar VV. Bilateral nevus of Ota with Klippel-Trenaunay syndrome. Med J Armed Forces India 1992;48:231-3.  Back to cited text no. 2
Alberti W. Radiotherapy of choroidal hemangioma. Int J Radiat Oncol Biol Phys 1986;12(Suppl 1):122-3.  Back to cited text no. 3
Saricaoglu MS, Guven D, Karakurt A, Sengun A, Ziraman I. An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. Retina 2002;22:368-71.  Back to cited text no. 4
Patil B, Sinha G, Nayak B, Sharma R, Kumari S, Dada T. Bilateral Sturge-Weber and Phakomatosis pigmentovascularis with Glaucoma, an overlap syndrome. Case Rep Ophthalmol Med 2015;2015:106932.  Back to cited text no. 5
Shields CL, Kligman BE, Suriano M, Viloria V, Iturralde JC, Shields MV, et al. Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: Combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. Arch Ophthalmol 2011;129:746-50.  Back to cited text no. 6


  [Figure 1], [Figure 2], [Figure 3]


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