Porphyria cutanea tarda: an intriguing genetic disease and marker.
Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun-exposed skin, a classic presenting sign of PCT, is not exclusive to the condition. Cutaneous findings must also trigger physicians to consider additional types of porphyrias, such as variegate porphyria. The diagnosis of pseudoporphyria, which does not result from enzymatic absence, must be considered in patients with photosensitivity and cutaneous bullae. Recent health food trends, such as chlorophyll, have been linked to pseudoporphyria. PCT is a serious condition in which accurate diagnosis is necessary for appropriate management.
University of Nebraska Medical Center, Omaha, NE, USA.
Nancy S
NS
Handler
Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.
Marc Z
MZ
Handler
University of Nebraska Medical Center, Omaha, NE, USA.
Matthew P
MP
Stephany
Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.
Glenn A
GA
Handler
Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.
Robert A
RA
Schwartz
D003937:Diagnosis, Differential; D018450:Disease Progression; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics / Q000628:therapy; D017094:Porphyrias, Hepatic / Q000175:diagnosis; D012307:Risk Factors
D006418:Heme