1599: First iconographic description of hepatoerythropoietic porphyria

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Abstract

The author's aim was to contribute information to the history of porphyrias through the analysis of a 16th century portrait. The subject drawn by physician Aldrovandi is a 20-year-old girl showing remarkable facial hypertrichosis, while her body is described as hairless. After a brief excursus through the history of porphyrias, the author revisited a previous diagnosis of hypertrichosis lanuginosa with the aid of current clinical findings. Accurate research of the drawings by the 16th century physician together with the study of our case's family history have supplied information on the young woman affected by hirsutism, such as the absence of hair on her body surface. Careful observation together with updated knowledge resulted in a diagnosis of hepatoerythropoietic porphyria; a disease characterized by severe facial hypertrichosis, a hairless body, and very early onset and heredity.

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