Phacomatosis Pigmentovascularis
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Phacomatosis Pigmentovascularis Overview

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What is the definition of Phacomatosis Pigmentovascularis?
Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks. Signs and symptoms may include port wine stain, melanocytic nevi (commonly known as moles), epidermal nevi, dermal melanocytosis (areas of blue-gray discoloration), nevus spilus, and patches of hyperpigmentation (areas of darker skin). Other skin features may include nevus anemicus (areas of lighter skin) and café au lait spots. About half of people with PPV have systemic involvement, which means they have features affecting other areas of the body. People with systemic involvement may have neurologic, ocular (eye), or muscular abnormalities. Isolated PPV is typically a sporadic disorder that occurs for the first time in people with no family history of PPV. PPV can be caused by a somatic genetic change in the GNA11 or GNAQ gene that is present only in the affected tissues of the body. These genetic changes are not present in the blood or in unaffected tissues, which means the disorder is likely due to non-inherited genetic changes that are randomly acquired after conception. In some cases of isolated PPV, the underlying cause remains unknown.
What are the alternative names for Phacomatosis Pigmentovascularis?
  • Phacomatosis pigmentovascularis
  • Association of cutaneous vascular malformations and different pigmentary disorders
  • PPV
  • Phakomatosis pigmentovascularis
Who are the top Phacomatosis Pigmentovascularis Local Doctors?
Elite in Phacomatosis Pigmentovascularis
Elite in Phacomatosis Pigmentovascularis
Referral may be required
London, ENG, GB 

Veronica Kinsler practices practicing medicine in London, United Kingdom. Ms. Kinsler is rated as an Elite expert by MediFind in the treatment of Phacomatosis Pigmentovascularis. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Giant Congenital Melanocytic Nevus, Mosaicism, Phacomatosis Pigmentovascularis, and Ectodermal Dysplasias.

Elite in Phacomatosis Pigmentovascularis
Elite in Phacomatosis Pigmentovascularis
Referral may be required
London, ENG, GB 

Satyamaanasa Polubothu practices practicing medicine in London, United Kingdom. Polubothu is rated as an Elite expert by MediFind in the treatment of Phacomatosis Pigmentovascularis. They are also highly rated in 15 other conditions, according to our data. Their clinical expertise encompasses Mosaicism, Giant Congenital Melanocytic Nevus, Phacomatosis Pigmentovascularis, and Linear Nevus Sebaceous Syndrome.

 
 
 
 
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Experienced in Phacomatosis Pigmentovascularis
Dr. John Novak
Internal Medicine
Experienced in Phacomatosis Pigmentovascularis
Dr. John Novak
Internal Medicine

Bassett Health Center Cobleskill

136 Parkway Drive, 
Cobleskill, NY 
518-234-2555
Languages Spoken:
English
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John Novak is a primary care provider, practicing in Internal Medicine in Cobleskill, New York. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Phacomatosis Pigmentovascularis. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center