Living with Port-wine stain with oculocutaneous melanosis
A rare skin condition from birth with a widespread port-wine birthmark and a pigment birthmark, sometimes with eye or brain involvement.
Understanding Port-wine stain with oculocutaneous melanosis
It is present from birth. It can come with other skin birthmarks, and sometimes with problems outside the skin, most often involving the brain, eyes or bones and muscles. Several subtypes are described based on their features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Port-wine stain (a flat red or purple birthmark)
- Darker patches of skin
- Lighter patches of skin
- Glaucoma (raised eye pressure)
- Seizures
- Lower bone density
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Vascular Birthmarks Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Vascular Birthmarks Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Vascular Birthmarks Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene or describe an inheritance pattern.
Also known as: phakomatosis pigmentovascularis
Patient organizations
- Vascular Birthmarks FoundationPort-wine stain with oculocutaneous melanosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Port-wine stain with oculocutaneous melanosis.
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