A Reconnaissance painting in Mantua, Italy contains the portrait of a multisystem genetic disorder that was first described more than 80 years later, says new research into the work.
Published in Lancet Neurology, the study diagnosed a case of neurofibromatosis type 1 (NF1) in the portrait of a maidservant affected by dwarfism. Caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division, the disorder is associated with decreased production of the protein neurofibromin and is characterized by the growth of tumors on the nerves.
The woman diagnosed with the disease is portrayed alongside Ludovico Gonzaga, the ruler of the Italian city of Mantua from 1444 to his death in 1478, his family, courtiers and a pet dog.
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Andrea Mantegna (1431–1506), painted the work between 1465 and 1475 as part of a series of frescoes in the Bridal Chamber in the Gonzaga Palace in Mantua.
"Mantegna is painting for us in images that are almost alive and breathing, so that the subject seems not to be represented, but actually to exist," Francesco Gonzaga, the artist's patron, wrote.
It turns out Mantegna's portraits are so realistic that they also depict pathological disorders.
According to Raffaella Bianucci, Legal Medicine Section's anthropologist and paleopathologist at University of Turin, there is little doubt that the maidservant was affected by NF1.
The neurological disease today affects one in 3,000 births.
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"The symptoms appear during childhood, usually with flat and pigmented birthmarks commonly referred to as café-au-lait spots," Bianucci told Discovery News.
Subcutaneous or cutaneous neurofibromas develop over time, as well as orthopedic problems. Dome-shaped gelatinous masses, known as Lish nodules, commonly appear on the surface of the iris.
"The servant has five neurofibromas on the face and one on the hand, five caféau lait spots on the cheeks and one on the chin, several Lish nodules in the left and right irises, a larger than average head, short stature and a deformed right index finger," Bianucci and colleagues Otto Appenzeller, at New Mexico Health Enhancement and Marathon Clinics Research Foundation, and Antonio Perciaccante, at the Department of Medicine of Gorizia Hospital, wrote.
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The researchers concluded the signs are a clear manifestation of neurofibromatosis type 1.
The disease was painted roughly 86 years before the first medical description in 1592 by the physician and naturalist Ulisse Aldrovrandi. It was then officially recognized in 1882 by German pathologist Friedrich Daniel von Recklinghausen.
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