PORPHYRIA CUTANEA TARDA

Definition Immunopathology/special stains

• Photosensitive subepidermal blistering disorder • Direct immunofluorescence studies shows nonspecific
resulting from metabolic defect in the heme synthetic pattern of immunoreactant (Ig, complement, laminin,
pathway as a result of mutation in the gene encoding and type-IV collagen) deposition around superficial
for uroporphyrinogen decarboxylase; a more common dermal blood vessels, sweat glands, and along the
predisposed, sporadic variant is also recognized dermal–epidermal junction
• Indirect immunofluorescence studies negative
Clinical features • Thickened vessels, diastase-resistant, PAS-positive
Epidemiology • Intraepidermal, diastase resistant, PAS-positive “cater-
• Autosomal dominant, but majority of cases are spo- pillar” bodies
radic • Split often develops in lamina lucida but may be deep
• Usually presents in late childhood (familial form) to to lamina densa
early adulthood (sporadic form)
• Rare cases associated with exposure to polyhaloge- Main differential diagnoses
nated aromatic hydrocarbons • Pseudoporphyria
• No clear gender predilection • Cell-poor/free bullous pemphigoid
• Epidermolysis bullosa congenita
Presentation • Epidermolysis bullosa acquisita
• Photosensitivity, with disease flares resulting from exces- • Bullous amyloidosis
sive exposure to sunlight, but also potential liver insults,
such as alcohol, oral contraceptives, hepatitis C virus,
HIV, hemochromatosis
• Tense vesicles and bullae photodistributed classically
over dorsal hands, forearms
• Often see blister remnants, crusted erosions, dyspig-
mentation
• Associated scarring and milia formation characteristic
• Hypertrichosis on face, usually sideburn, malar areas
• Hair (scarring alopecia) and nails (photo-onycholysis)
may be affected
• Drug-induced pseudoporphyria can create similar
clinical picture, although lacking hypertrichosis
• Metabolic laboratory studies show elevated urinary
porphyrins

Prognosis and treatment

• Chronic, waxing–waning course, punctuated by epi- Fig 1.  Porphyria cutanea tarda. Vesicles, erosions, and scarring
sodes of disease flares on the dorsal hands.
• R isk for hepatocellular carcinoma (hepatitis
C–related?)
• Skin fragility may impair daily function, work
• Sun protection essential to management
• Therapeutic phlebotomy common first-line therapy
• Hydroxycholoroquine or chloroquine helpful
• Chelation also may be effective

Pathology
Histology
• Paucicellular subepidermal blister with festooning of
dermal papillae
• Thickened papillary vessels with hyalinization
• Dermal sclerosis marked in chronic lesions (scleroder-
miform)
• Solar elastosis prominent
• Identical histology in other cutaneous forms of por-
phyria
Fig 2.  Porphyria cutanea tarda. Scanning view of a subepidermal
blister.

87
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88 Porphyria Cutanea Tarda

Fig 3.  Porphyria cutanea tarda. The blister cavity is cell free. Fig 4.  Porphyria cutanea tarda. The presence of erythrocytes in
Note the festooning. the lumen of the blister is a common finding.

Fig 5.  Porphyria cutanea tarda. The blood vessels are thickened, Fig 6.  Porphyria cutanea tarda. High-power view highlighting
and there is a background of solar elastosis. blood vessel wall hyalinization.

Fig 7.  Porphyria cutanea tarda. The thickened blood vessel walls
can be emphasized by direct immunofluorescence, in this exam-
ple with C3. Note focal deposition along the dermal–epidermal
junction as well.

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