Living with Phakomatosis pigmentokeratotica
A rare skin condition with speckled dark spots and raised oily patches, sometimes with other body differences.
Understanding Phakomatosis pigmentokeratotica
The skin has speckled lentiginous nevi (flat spots with darker dots) together with epidermal sebaceous nevi (raised, oily patches). Some people also have differences in other parts of the body, such as a curved spine. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Speckled dark skin spots (nevus spilus)
- Raised, oily skin patches (nevus sebaceous)
- Curved spine (scoliosis)
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 cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in HRAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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
Changes in the HRAS gene cause this condition.
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPhakomatosis pigmentokeratotica · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Phakomatosis pigmentokeratotica.
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