Sporadic porphyria cutanea tarda

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ORPHA:443057OMIM:176090E80.1
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Overview

Sporadic porphyria cutanea tarda (also called sporadic PCT or Type I PCT) is the most common type of porphyria, a group of disorders that affect how the body makes heme — an important part of red blood cells. In sporadic PCT, the liver does not produce enough of an enzyme called uroporphyrinogen decarboxylase (UROD). This causes harmful substances called porphyrins to build up in the body, especially in the skin and liver. Unlike the inherited form of PCT, the sporadic type is not passed down through families — it develops during a person's lifetime, usually triggered by certain environmental or lifestyle factors. The most noticeable symptoms affect the skin. People with sporadic PCT often develop blisters, fragile skin, and scarring on areas exposed to sunlight, especially the hands, forearms, and face. The skin may also darken or grow extra hair in affected areas. These skin changes can be uncomfortable and distressing. The liver is also commonly affected, and many people have some degree of liver inflammation. The good news is that sporadic PCT is very treatable. The main goals are to find and remove the triggers causing the disease — such as alcohol, iron overload, estrogen, or hepatitis C infection — and to lower porphyrin levels in the body. Two main treatments are used: regular removal of blood (phlebotomy) and a medication called hydroxychloroquine. Most people respond well to treatment and can achieve remission, meaning their symptoms go away or greatly improve.

Also known as:

Key symptoms:

Blisters on sun-exposed skin, especially the hands and forearmsFragile, easily damaged skin that tears or blisters with minor bumpsDarkening or discoloration of the skinIncreased hair growth on the face and other areas (hypertrichosis)Scarring and thickening of the skin over timeSkin that heals slowly after injuryItching or burning of the skinReddish or brownish urine (from porphyrins being excreted)Liver inflammation or abnormal liver blood testsSensitivity to sunlightMilia — small white cysts on the skinFatigue related to liver involvement or anemia

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Sporadic porphyria cutanea tarda.

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No actively recruiting trials found for Sporadic porphyria cutanea tarda at this time.

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No specialists are currently listed for Sporadic porphyria cutanea tarda.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Sporadic porphyria cutanea tarda.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What triggered my PCT, and how do I find out if I have hepatitis C, iron overload, or other contributing factors?,Should I have genetic testing to confirm I have the sporadic form rather than the inherited form of PCT?,Which treatment is right for me — phlebotomy, hydroxychloroquine, or both — and how long will I need it?,How will I know when I am in remission, and what monitoring do I need long-term?,What sun protection measures do I actually need to take every day?,Are there any medications, supplements, or foods I should avoid to prevent a flare?,What are the signs that my liver is being affected, and when should I see a liver specialist?

Common questions about Sporadic porphyria cutanea tarda

What is Sporadic porphyria cutanea tarda?

Sporadic porphyria cutanea tarda (also called sporadic PCT or Type I PCT) is the most common type of porphyria, a group of disorders that affect how the body makes heme — an important part of red blood cells. In sporadic PCT, the liver does not produce enough of an enzyme called uroporphyrinogen decarboxylase (UROD). This causes harmful substances called porphyrins to build up in the body, especially in the skin and liver. Unlike the inherited form of PCT, the sporadic type is not passed down through families — it develops during a person's lifetime, usually triggered by certain environmental

How is Sporadic porphyria cutanea tarda inherited?

Sporadic porphyria cutanea tarda follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Sporadic porphyria cutanea tarda typically begin?

Typical onset of Sporadic porphyria cutanea tarda is adult. Age of onset can vary across affected individuals.