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Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients
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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537679/ https://www.ncbi.nlm.nih.gov/pubmed/31148861 http://dx.doi.org/10.4103/ijd.IJD_385_18 |
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author | Dutta, Abhijit Ghosh, Sudip Kumar Bandyopadhyay, Debabrata Bhanja, Dibyendu Bikash Biswas, Surajit Kumar |
author_facet | Dutta, Abhijit Ghosh, Sudip Kumar Bandyopadhyay, Debabrata Bhanja, Dibyendu Bikash Biswas, Surajit Kumar |
author_sort | Dutta, Abhijit |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6537679 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-65376792019-05-30 Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients Dutta, Abhijit Ghosh, Sudip Kumar Bandyopadhyay, Debabrata Bhanja, Dibyendu Bikash Biswas, Surajit Kumar Indian J Dermatol Short Communication 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. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6537679/ /pubmed/31148861 http://dx.doi.org/10.4103/ijd.IJD_385_18 Text en Copyright: © 2019 Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Short Communication Dutta, Abhijit Ghosh, Sudip Kumar Bandyopadhyay, Debabrata Bhanja, Dibyendu Bikash Biswas, Surajit Kumar Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients |
title | Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients |
title_full | Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients |
title_fullStr | Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients |
title_full_unstemmed | Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients |
title_short | Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients |
title_sort | phakomatosis pigmentovascularis: a clinical profile of 11 indian patients |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537679/ https://www.ncbi.nlm.nih.gov/pubmed/31148861 http://dx.doi.org/10.4103/ijd.IJD_385_18 |
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