Living with Erythropoietic uroporphyria associated with myeloid malignancy
A rare condition in adults with fragile, blistering skin on sun-exposed areas, linked to a blood marrow disorder.
Understanding Erythropoietic uroporphyria associated with myeloid malignancy
Porphyrias affect how the body makes heme, a part of red blood cells. Here, skin is fragile and blisters on exposed areas, often with blood-filled blisters on the backs of the hands. Tests show raised porphyrins in urine, blood plasma, and stool. It appears in adulthood.
Signs & symptoms
GARD doesn't list specific symptoms here. Its summary describes:
- Fragile skin
- Blisters on sun-exposed skin
- Blood-filled blisters on the backs of the hands
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 genetic specialists, kidney 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.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Kidney 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
Changes in genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Patient organizations
- 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 Erythropoietic uroporphyria associated with myeloid malignancy.
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