Living with Cutaneous porphyria
A rare inherited blood condition (congenital erythropoietic porphyria) causing severe sun sensitivity, blisters, and scarring from infancy.
Understanding Cutaneous porphyria
Sun sensitivity can lead to scarring, blistering, and extra hair on the face and the backs of the hands. Sun damage and infection can cause the loss of fingers and facial features. Other signs can include excess body hair, reddish teeth, anemia, and reddish urine. The cause is a problem making heme in red blood cells in bone marrow, which causes a buildup of porphyrins. Symptoms range from mild to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe sun sensitivity
- Skin blistering and scarring
- Fragile skin
- Reddish teeth (erythrodontia)
- Red-brown or purple urine
- Skin color changes
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 blood and bone marrow specialists, genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in UROS 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
American Porphyria Foundation and United Porphyrias Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: American Porphyria Foundation, United Porphyrias Association
- 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 American Porphyria 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
It is caused by changes in the UROS gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cep; cep - congenital erythropoietic porphyria; congenital erythropoietic porphyria; congenital photosensitive porphyria; congenital porphyria; erythropoietic porphyria
Patient organizations
- American Porphyria FoundationCutaneous porphyria · United States
- United Porphyrias AssociationCutaneous porphyria · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cutaneous porphyria.
Explore research for Cutaneous porphyria
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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