A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme
Symptoms of Porphyria Cutanea Tarda
The following features are indicative of Porphyria Cutanea Tarda:
painless detachment of the nail from the nail bed
blisters on the skin
hyperpigmentation
hypertrichosis
liver problems
It is possible that Porphyria Cutanea Tarda shows no physical symptoms and still is present in a patient.
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Common Causes of Porphyria Cutanea Tarda
The following are the most common causes of Porphyria Cutanea Tarda:
mutations in the UROD, HFE genes
intake excess iron
use of alcohol
inherited deficiencies in uroporphyrinogen decarboxylase
Risk Factors for Porphyria Cutanea Tarda
The following factors may increase the likelihood of Porphyria Cutanea Tarda:
alcohol abuse
hepatitis C virus
excess iron
Prevention of Porphyria Cutanea Tarda
No, it is not possible to prevent Porphyria Cutanea Tarda.
mutations in the UROD, HFE genes
Occurrence of Porphyria Cutanea Tarda
Number of Cases
The following are the number of Porphyria Cutanea Tarda cases seen each year worldwide:
Widely occurring between 500K - 1 Million cases
Common Age Group
Porphyria Cutanea Tarda most commonly occurs in the following age group:
Aged between 29-55 years
Common Gender
Porphyria Cutanea Tarda can occur in any gender.
Lab Tests and Procedures for Diagnosis of Porphyria Cutanea Tarda
The following lab tests and procedures are used to detect Porphyria Cutanea Tarda:
Genetic testing: To diagnose porphyria cutanea tarda disease
Doctor for Diagnosis of Porphyria Cutanea Tarda
Patients should visit the following specialists if they have symptoms of Porphyria Cutanea Tarda:
Endocrinologist
Complications of Porphyria Cutanea Tarda if untreated
Yes, Porphyria Cutanea Tarda causes complications if it is not treated. Below is the list of complications and problems that may arise if Porphyria Cutanea Tarda is left untreated:
liver cirrhosis
liver cancer
Procedures for Treatment of Porphyria Cutanea Tarda
The following procedures are used to treat Porphyria Cutanea Tarda:
Phlebotomy: To treat porphyria cutanea tarda
Self-care for Porphyria Cutanea Tarda
The following self-care actions or lifestyle changes may help in the treatment or management of Porphyria Cutanea Tarda:
don't smoke
avoid alcohol consumption
take steps to reduce emotional stress
minimize sun exposure
Alternative Medicine for Treatment of Porphyria Cutanea Tarda
The following alternate medicine and therapies are known to help in the treatment or management of Porphyria Cutanea Tarda:
Use dietary supplement: To replace vitamin D deficiency
Patient Support for Treatment of Porphyria Cutanea Tarda
The following actions may help Porphyria Cutanea Tarda patients:
Join support and advocacy groups: Helps patients to connect with other patients and families to provide valuable services
Time for Treatment of Porphyria Cutanea Tarda
While time-period of treatment for each patient may vary, below is the typical time-period for Porphyria Cutanea Tarda to resolve if treated properly under an expert supervision:
