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. Several subtypes of PPV have been identified which are generally distinguished based on the specific type(s) of skin features present.

Isolated PPV is typically a sporadic disorder that occurs for the first time in people with no family history of PPV. Researchers have found that PPV can be caused by a somatic mutation in the GNA11 or GNAQ gene that is present only in the affected tissues of the body. These mutations are not present in the blood or in unaffected tissues, which means the disorder is likely due to non-inherited mutations that are randomly acquired after conception. In some cases of isolated PPV, the underlying cause remains unknown.

Treatment and long-term outlook (prognosis) of PPV largely depends whether there is systemic involvement and which body parts or organ systems are affected. Isolated PPV without systemic involvement typically does not require treatment. However, large skin lesions may cause problems with body image and self-esteem, so laser treatments may be considered to improve the appearance of skin lesions.

• Melanocytic nevi (commonly known as moles)
• Epidermal nevi
• Nevus anemicus (areas of lighter skin)
• Hyperpigmentation (areas of darker skin)
• Cafe-au-lait spots
• Dermal melanocytosis (areas of blue-gray discoloration)
• Nevus of Ota
• Nevus of Ito
• Nevus spilus

Around half of people with PPV have systemic involvement (i.e., body systems other than the skin are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) are common. Ocular melanosis refers to a blue-gray pigmentation in the white of the eye (the sclerae). This condition often occurs along with nevus of Ota and may affect one or both eyes. Complications of nevus of Ota include glaucoma and melanoma, so people with nevus of Ota require careful examination and follow-up by an ophthalmologist. Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules. When neurologic abnormalities are present they usually become apparent in the first few months of life and may include developmental delay, seizures, intracranial calcifications (calcium deposits within the brain), or cerebral atrophy. Some people with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome, each of which causes various signs and symptoms.

A variety of other signs or symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease, scoliosis, malignant colonic polyposis, hypoplastic larynx, multiple granular celltumors, and selective IgA deficiency). Signs and symptoms associated with PPV can vary greatly from person to person and can be difficult to predict.

If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, neurological problems, or eye conditions) it typically does not require treatment. However, because large skin lesions may cause problems with body image and self-esteem, parents of children with PPV, or adults with PPV, may consider laser treatments to improve the appearance of skin lesions.Congenital lesions may grow in proportion with the body, so treatment as early as possible in children with PPV may be recommended to reduce the number of treatments needed and avoid self-esteem problems in future years. Medical treatment for systemic complications depends on the signs and symptoms present in each person and may require an individualized treatment plan involving a team of specialists in ophthalmology, neurology, and/or vascular surgery.