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Year : 2022  |  Volume : 67  |  Issue : 5  |  Page : 608-610
Phakomatosis Pigmentovascularis with Atypical Sturge–Weber Syndrome, Glaucoma and Asymptomatic CNS Microcirculation Aberrations

1 Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Department of Pathology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Date of Web Publication29-Dec-2022

Correspondence Address:
Aditi Dhanta
Department of Dermatology, Venereology and Leprology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijd.ijd_34_21

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How to cite this article:
Kansal NK, Melanda H, Dhanta A, Kumari N. Phakomatosis Pigmentovascularis with Atypical Sturge–Weber Syndrome, Glaucoma and Asymptomatic CNS Microcirculation Aberrations. Indian J Dermatol 2022;67:608-10

How to cite this URL:
Kansal NK, Melanda H, Dhanta A, Kumari N. Phakomatosis Pigmentovascularis with Atypical Sturge–Weber Syndrome, Glaucoma and Asymptomatic CNS Microcirculation Aberrations. Indian J Dermatol [serial online] 2022 [cited 2023 Feb 7];67:608-10. Available from:


Phakomatois pigmentovascularis (PPV) is a rare congenital cutaneous condition characterised by the combination of capillary malformation and pigmentary naevi. Many, but not all, patients of PPV have comorbidities, including naevus anaemicus, scleral/intraocular melanocytosis, glaucoma, intracerebral vascular malformation, Klippel–Trenaunay–Weber syndrome, naevus of Ota, skeletal abnormalities, etc.[1],[2] A 13-year-old female child born of non-consanguineous marriage presented to the dermatology outpatient services with dark-red discolouration over the face (bilateral cheek, chin and forehead) extending predominantly toward the right side of the neck, chest, trunk and upper and lower extremities since birth. There has been a proportionate increase in the lesion size concerning body growth with age but no change in the appearance or texture. She has had complaints of decreased vision for the last 3 years. However, there were no developmental delay, loss of consciousness, vomiting or convulsion/seizures; vaccination history was regular.

Cutaneous examination revealed reddish-blue hyperpigmentation over the bilateral cheek and periocular region, suggestive of a naevus of Ota overlapping with erythematous discolouration, suggestive of a port-wine stain [Figure 1]a, [Figure 1]b, [Figure 1]c. The port-wine stain was present over the right upper limb, neck, trunk and right lower limb up to the right foot involving the sole [Figure 1]d. A Mongolian spot was noted diffusely over the lower trunk covering the gluteal region [Figure 2]. There were multiple well-defined hypopigmented macules of naevus anaemicus scattered predominantly over the middle and lower part of the right side of the back which on a diascopy became indistinguishable from the surrounding skin [Figure 2]. Dark-brown macules or papules scattered in a hyperpigmented background characteristic of speckled naevus were not seen.
Figure 1: (a) Reddish-blue hyperpigmentation over the bilateral cheek and periocular region. Nevus of Ota (bilaterally), overlapping with a port-wine stain. (b) Nevus of Ota (right cheek and forehead), overlapping with a port-wine stain. (c) Nevus of Ota (left cheek and temple), overlapping with a port-wine stain. (d) Port-wine stain over the right upper limb, neck, and chest. (e) Port-wine stain over the posterior aspect of right leg. (f) Port-wine stain over the anterior aspect of right leg and dorsum of right foot

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Figure 2: Nevus anemicus (black arrow), Mongolian spot (red arrows) on the back and Port wine stain (yellow arrow)

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Dermoscopy (DermLite II Hybrid M, 3 Gen, San Juan Capistrano, CA, USA; magnification × 10) from erythematous and blackish hyperpigmentation over face showed multiple linear and dotted vessels which correspond to port-wine stain as in the study by Liu et al. with an additional detection of homogenous greyish-black pigmentary areas [Figure 3]c.[3]
Figure 3: (a and b) MRI brain. Veno-capillary microcirculation aberrations. (c) dotted vessels (black arrow) linear vessels (yellow arrow) homogenous greyish black pigmentary areas (black arrow). (d) Pathology from the right thigh showing prominent ectatic capillaries in the papillary dermis. (H&E stain; original magnification 40×)

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A skin biopsy was performed on the right thigh which showed unremarkable epidermis with prominent ectatic capillaries in the papillary dermis, consistent with a port-wine stain [Figure 3]d.

Ophthalmologic examination of the patient showed bilateral conjunctival melanocytosis. The fundus examination revealed an advanced cupping on the right side and a significant scotoma on the visual field examination. The patient was diagnosed with pigmentary open-angle glaucoma and was prescribed topical timolol.

A magnetic resonance imaging (MRI) scan of the brain revealed mild atrophy of the cerebral parenchyma with prominent sulcal spaces. There was a thickening of the skull vault with prominent diploic veins, with prominent dural venous sinuses and subependymal and perimesenchephalic veins, suggestive of veno-capillary microcirculation aberrations [Figure 3]a and [Figure 3]b. The patient was diagnosed with atypical Sturge–Weber syndrome (SWS) but did not have any neurologic signs or symptoms until now. The patient was diagnosed with PPV (type IVb; unclassifiable form), was counselled and is on regular follow-up.

Hasegawa and Yasuhara first classified PPV into four types according to the different characteristics of the vascular and pigmentary malformations[1]. Later, PPV was reclassified by Torrelo et al. and by Happle [Table 1].[4] Our patient had a diffuse port-wine stain, bilateral nevus of Ota, Mongolian spot and naevus anaemicus with extracutaneous features in the form of atypical SWS and pigmentary open-angle glaucoma. This combination is rare and classified as PPV type IVb (unclassifiable form). The presence of ipsilateral facial and leptomeningeal angiomas with or without glaucoma is considered classic SWS.[5] Atypical variants have also been reported.[6] Our patient had bilateral facial nevi and no history of seizures, which is a common neurologic disturbance and often noted during the first 2–3 years. However, radiological findings were consistent with SWS. PPV cases reported until now mainly belong to the Oriental race. Of the various types and subtypes described, type IIb appears to be the most common (45%), followed by type IIa (30%); however, the data are difficult to interpret, possibly a few more than 200 cases reported until now.[7] Previously, twin spotting or didymous, i.e., the occurrence of paired patches of mutant tissue that differ genetically from each other and normal background tissue, was considered a possible explanation of the simultaneous presence of a vascular and melanocytic birthmark or the presence of Schimmelpenning syndrome and papular naevus spilus syndrome in phacomatosis caesioflammea and phacomatosis pigmentokeratotica, respectively. However, because molecular analysis had shown that 'non-allelic twin spotting' originated from one single mutation, the concept of non-allelic didymous was revoked by the original author and has been categorised as 'pseudodidymosis'.[8]
Table 1: Proposed classification of phakomatosis pigmentovascularis (PPV) [1],[3],[4]

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Conflicts of interest

There are no conflicts of interest.

   References Top

Hasegawa Y, Yasuhara M. Phakomatosis pigmentovascularis type IVa. Arch Dermatol 1985;121:651-5.  Back to cited text no. 1
Kinsler VA, Sebire NJ. Congenital naevi and other developmental abnormalities affecting the skin. In: Griffiths C, Barker J, Bleiker T, et al. editors. Rook's Textbook of Dermatology. 9th edition. Oxford: John Wiley & Sons, Ltd.; 2016. p. 75.1-25.  Back to cited text no. 2
Jiang X, Liu L, Sun J, Pan Y. A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel-Trenaunay syndrome and Sturge-Weber syndrome. Indian J Dermatol Venereol Leprol 2019;85:618.  Back to cited text no. 3
Torrelo A, Zambrano A, Happle R. Cutis marmorata telangiectatica congenita and extensive mongolian spots: Type 5 phacomatosis pigmentovascularis. Br J Dermatol 2003;148:342-5.  Back to cited text no. 4
Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992;39:591-620.  Back to cited text no. 5
Ozlem Hergüner FI, Ozcan K, Altunbasak S. Diagnosis: An atypical case of Sturge-Weber syndrome with bilateral facial hemangioma, bilateral intracranial calcification, and megalocornea. Ann Saudi Med 2008;28:150-1.  Back to cited text no. 6
Vidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R. Phakomatosis pigmentovascularis II A and II B: Clinical findings in 24 patients. J Dermatol 2003;30:381-8.  Back to cited text no. 7
Happle R. Phacomatosis pigmentokeratotica is a “Pseudodidymosis”. J Invest Dermatol 2013;133:1923-5.  Back to cited text no. 8


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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