Porphyria Cutanea Tarda Clinical Presentation

Updated: Oct 19, 2020
  • Author: Anthony W Linfante, Jr, MD; Chief Editor: Dirk M Elston, MD  more...
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The most common initial symptoms of porphyria cutanea tarda are cutaneous fragility and blistering of the hands, forearms, and, sometimes, the face. Discolored urine may also be reported, but this information may need to be elicited. Changes in hair growth and pigmentation may be noted spontaneously or only after inquiry. Patients with porphyria cutanea tarda often do not realize the role of sunlight exposure in the subsequent appearance of lesions.

In familial porphyria cutanea tarda, other affected relatives may be known. However, most related carriers of the mutant gene remain silent, and patients may be unaware of the familial nature of their disease.

In both familial and sporadic porphyria cutanea tarda, a history of exposure to one or more environmental or medicinal inducers (eg, ethanol, estrogens, hepatitis) can often be elicited. Paradoxically, proven carriers of the same mutation as that of a symptomatic relative with exposure to a known inducer may remain clinically and biochemically silent despite similar exposure. In symptomatic familial porphyria cutanea tarda, occasionally none of the common inducing agents is discoverable. Childhood onset of porphyria cutanea tarda should suggest either heterozygous or homozygous familial forms of the disease, unless observed in the context of environmental exposure to a chemical hepatotoxin.

Porphyria cutanea tarda–like disease in multiple members of populations exposed to polyhalogenated aromatic hydrocarbons should suggest epidemic toxic porphyria. [48]


Physical Examination

The most common presenting sign of porphyria cutanea tarda is fragility of sun-exposed skin after mechanical trauma, leading to erosions and bullae, typically on hands and forearms and occasionally on face or feet. Healing of crusted erosions and blisters leaves milia, hyperpigmented patches, and hypopigmented atrophic scars.

Hypertrichosis is often observed over temporal and malar facial areas and may also involve arms and legs. Pigmentary changes include melasmalike hyperpigmentation of the face. An erythematous suffusion or plethora of the central face, neck, upper chest, and shoulders may be present. Scarring alopecia and separation of nail plates from their beds (photo-onycholysis) can be seen in more severely affected patients. [49]

Indurated, waxy, yellowish plaques that resemble lesions of scleroderma can develop over the chest and the back but are most prominent in the preauricular and nuchal areas. These plaques may develop dystrophic calcification. Rarely, the only physical sign of porphyria cutanea tarda is a hyperpigmented sclerodermoid appearance.

In severely affected individuals, particularly familial hepatoerythropoietic or toxic epidemic cases in children, digital shortening, atrophy, and contractures resembling those of dystrophic epidermolysis bullosa have occurred.

A urine sample is often, but not always, grossly discolored with a tea- or wine-colored tint.