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. 2019 May-Jun;64(3):217-223.
doi: 10.4103/ijd.IJD_385_18.

Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients

Abhijit Dutta  1 , Sudip Kumar Ghosh  2 , Debabrata Bandyopadhyay  3 , Dibyendu Bikash Bhanja  2 , Surajit Kumar Biswas  2
Affiliations

Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients

Abhijit Dutta et al. Indian J Dermatol. 2019 May-Jun.

Erratum in

  • CORRIGENDUM.
    [No authors listed] [No authors listed] Indian J Dermatol. 2019 Sep-Oct;64(5):420. Indian J Dermatol. 2019. PMID: 31543543 Free PMC article.

Abstract

Introduction: Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. The objective of our study was to describe the clinical characteristics of a series of Indian patients presenting with this rare entity.

Materials and methods: It was a record-based descriptive case series.

Results: A total of 11 patients with PPV (9 females, 2 males, age range: 7 days to 45 years; mean 11.6 years) were studied. Port wine stain was present in 10 (91%) patients and one patient (9%) had cutis marmorata telangiectatica congenita. Isolated nevi of Ota and Mongolian spots were seen in 4 (36%) patients each. Simultaneous presence of both Mongolian spots and nevus of Ota was present in 1 (9%) patient. The combination of Mongolian spots and bilateral palatal hyper-melanosis was noticed in 2 (18%) patients. Café au lait macule was present in one patient. Bilateral ocular melanosis was found in 3 (27%) patients. Unilateral ocular melanosis was noticed in 4 (36%) patients. Two patients (18%) had history of seizure disorder and intracranial vascular anomalies on MRI imaging. Two patients (18%) had features of Klippel-Trenaunay syndrome. According to the traditional classification, three patients had PPV type 2b, one patient had PPV type 5b, and seven patients had PPV type 2a. According to the Happle's classification, 10 patients had PPV of cesio flammea type, and one patient had PPV of cesio marmorata type.

Limitations: We could not perform genetic study of the patients.

Conclusion: Our findings emphasize the importance of detailed systemic evaluation including ocular examination and brain imaging in every patient of PPV.

Keywords: Capillary malformation; Klippel-Trenaunay syndrome; nevus of Ota; phakomatosis pigmentovascularis; seizure.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Port wine stain over both the upper limbs and chest (b) Bilateral ocular melanosis with port wine stain (c) Palatal hypermelanosis
Figure 2
Figure 2
(a) Extensive port wine stain and Mongolian spots involving the face, trunk, limbs, and genitalia (b) Extensive port wine stain and Mongolian spots over the head, neck, and back
Figure 3
Figure 3
(a) Cutis marmorata telangiectatica over the lower limb (b) Magnetic resonance angiography of brain reveals a few abnormal dilated vessels in right parietal lobe
Figure 4
Figure 4
(a) Ocular melanosis and facial port wine stain (b) port wine stain over the soles (c) Coexistence of café au lait macules and Mongolian spots (d) Mongolian spots (marked by *) and port wine stains (marked by arrows) over the back
Figure 5
Figure 5
Magnetic resonance angiography of brain reveals abnormal tortuous vessels in relation to P2 segment of right postero-cerebral artery anomaly
See this image and copyright information in PMC

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