Spot the Diagnosis! The Case of The Ugly Duchess

As part of the Arts PRN series, we will intermittently be featuring pieces of historic art that hint at an underlying medical condition. They say a picture is worth 1000 words… can you Spot the Diagnosis after examining only a painting? Read on to learn not only about the art, but about these fascinating medical conditions. Who knows, maybe they’ll help you make a diagnosis some day (or at least help you out on Jeopardy)! After you read, consider submitting your own art to the Arts PRN Project.

Once believed to be a satirical representation of a duchess, this 1513 painting is Matsys’ most recognizable work. If it seems familiar you might not be surprised to know that it was likely the inspiration for the Duchess in “Alice in Wonderland”.

However, there are a few key features within this portrait that were so carefully captured by Matsys that it could instead have been a portrait of a woman suffering from a very particular disease…

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What disease does The Ugly Duchess have?

Paget disease of the bone.

This woman (unknown, but believed to be a noblewoman) is showing signs of Paget disease involving the maxilla, mandible and clavicles.¹

Paget disease of the bone, first described by Paget in 1877 as “osteitis deformans“, is a disorder characterized by the abnormal metabolism of bone.² The origin of Paget disease is unknown, but there is an increased risk of developing it with age and a controversial link with infection by an unknown virus. The prevalence of Paget disease above 80 years old is around 10% in the United States.³

 

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What are the phases of the disease?

There are three phases of Paget disease which typically occur in a linear fashion but may occur all at once.⁴ In Phase 1 there is an increase in osteoclastic activity where bone turnover is 20x the normal rate. In Phase 2 osteolytic-osteoblastic activity increases resulting in ineffective mineralization and woven bone formation. Finally, in Phase 3 there is dense bone deposition where bones become sclerotic and disorganized. Due to it’s disorganized nature the affected bones are weaker than normal bone. Paget disease tends to affect the pelvis, spine, skull bones but can affect any bone in the body. It can involve one or many bones.³

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How does the disease present?

70% of those with Paget disease are asymptomatic and the diagnosis is typically found incidentally on radiographs. However, these individuals are more prone to bone fractures and symptoms relating to the particular bone involved. For instance, nerve compression can occur due to Paget’s disease of the spine. As well, Paget’s disease has characteristic pain provocation complaints including: weight bearing, warmth, rest and night pain.³

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How is the disease worked up?

Blood work for Paget’s disease reveals elevated alkaline phosphatase. Radiographs show the general changes of sclerosis and nearby lytic lesions, as well as more characteristic changes depending on which bones are involved. Ca and PO4 should be done as well to evaluate for secondary hypoparathryoidism (due to increased Ca requirement from increased bone formation).³ Paget’s disease should be considered in an individual with normal GGT and increased alk-phos.

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How is the disease followed?

A first degree relative of an individual affected with Paget’s disease should have alk-phos screening every 3 years if above age 50. Someone like the duchess (and anyone else with a diagnosis of Paget’s disease) should have alk-phos testing every 3-12 months. ³

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How is the disease managed?

Management of Paget’s disease includes: pain control, calcium and vitD supplements, and low impact exercise. Symptomatic patients and patients with alk-phos >125% of normal are treated with bisphosphonates.³ Surgical intervention may be required to relieve compression, deformity, etc. It is also important to remember that ~10% of patients with Paget’s disease will have malignant degeneration in their lifetime and therefore should also be monitored for any signs of malignancy.³

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For more from the Spot the Diagnosis series, check out our other posts:

Spot the Diagnosis: The case of the Pale Woman

Spot the Diagnosis: The case of the Recluse

References