Annales de dermatologie et de venereologie · 2018
[Sclerodermatous changes revealing porphyria cutanea tarda].
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Brunet A, Hainaut E
Аннотация
BACKGROUND: Porphyria cutanea tarda (PCT) is associated with cutaneous accumulation of porphyrins. This accumulation results from a deficiency of uroporphyrinogen decarboxylase occurring only in the liver. The classical presentation is blistering on sun-exposed areas.
PATIENTS AND METHODS: A 59-year-old woman presented at the dermatology consultation for sclerotic lesions that had been present for one year. The remainder of the clinical examination and further investigations did not indicate systemic scleroderma. The sun-exposed nature of the lesions led us to perform an assay of urinary porphyrin, which was found to be elevated. Uroporphyrinogen decarboxylase levels were normal, confirming the diagnosis of type 1 PCT. Screening for a hepatic etiology revealed a heterozygous mutation H63D/C282Y of the hemochromatosis gene responsible for this clinical picture. The patient underwent regular bleeding, which led to complete disappearance of cutaneous sclerosis.
DISCUSSION: Sclerodermatous lesions are an unusual presentation of PCT and cause delays in diagnosis. The accumulation of uroporphyrins in the dermis stimulates fibroblasts, which then synthesize collagen, resulting in cutaneous sclerosis.
PATIENTS AND METHODS: A 59-year-old woman presented at the dermatology consultation for sclerotic lesions that had been present for one year. The remainder of the clinical examination and further investigations did not indicate systemic scleroderma. The sun-exposed nature of the lesions led us to perform an assay of urinary porphyrin, which was found to be elevated. Uroporphyrinogen decarboxylase levels were normal, confirming the diagnosis of type 1 PCT. Screening for a hepatic etiology revealed a heterozygous mutation H63D/C282Y of the hemochromatosis gene responsible for this clinical picture. The patient underwent regular bleeding, which led to complete disappearance of cutaneous sclerosis.
DISCUSSION: Sclerodermatous lesions are an unusual presentation of PCT and cause delays in diagnosis. The accumulation of uroporphyrins in the dermis stimulates fibroblasts, which then synthesize collagen, resulting in cutaneous sclerosis.