On 2013 Nov 24, John Sotos commented:

If this were 1903, I would diagnose ochronosis in the woman shown in the April 5 “Medical Mystery” (1). It would be the eighth case in the world’s literature. But if this were 1904, and if I were William Osler (alas!), then I would consider alkaptonuria as an additional diagnosis.

Before 1904, the diagnosis of alkaptonuria applied only to urine. Chemical properties, not color, made the diagnosis. A link with ochronosis had been proposed (2), but Osler was the first to describe ochronosis and alkaptonuria coexisting in patients, thereby bringing alkaptonuria “within the realm of the clinical physician” (3). Today, ochronotic pigmentation is considered a feature of the metabolic disease alkaptonuria (4).

Osler’s paper also lets us ponder the man and his times. Osler describes the examination of his index patient, then states: “As he left the room my attention was directed to the deep blue color of the inner surface of the ears” (3). Even if we were all Oslers (alas!), most physicians are now too busy completing reimbursement forms to watch their patients walk out of the examination room.

(1) Nikkels AF, Pierard GE. Images in clinical medicine. A medical mystery. N Engl J Med. 2001;344:1057.

(2) Albrecht H. Ueber ochronose. Zeitschrift fur Heilkunde. 1902;23:366.

(3) Osler W. Ochronosis: the pigmentation of cartilages, sclerotics, and skin in alkaptonuria. Lancet 1904;i:10-11.

(4) La Du BN. Alkaptonuria. Chapter 39 (pages 1371-1386) in: The Metabolic Basis of Inherited Disease. 7th ed. Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York: McGraw-Hill, 1995.

On 2013 Nov 24, John Sotos commented:

If this were 1903, I would diagnose ochronosis in the woman shown in the April 5 “Medical Mystery” (1). It would be the eighth case in the world’s literature. But if this were 1904, and if I were William Osler (alas!), then I would consider alkaptonuria as an additional diagnosis.

Before 1904, the diagnosis of alkaptonuria applied only to urine. Chemical properties, not color, made the diagnosis. A link with ochronosis had been proposed (2), but Osler was the first to describe ochronosis and alkaptonuria coexisting in patients, thereby bringing alkaptonuria “within the realm of the clinical physician” (3). Today, ochronotic pigmentation is considered a feature of the metabolic disease alkaptonuria (4).

Osler’s paper also lets us ponder the man and his times. Osler describes the examination of his index patient, then states: “As he left the room my attention was directed to the deep blue color of the inner surface of the ears” (3). Even if we were all Oslers (alas!), most physicians are now too busy completing reimbursement forms to watch their patients walk out of the examination room.

(1) Nikkels AF, Pierard GE. Images in clinical medicine. A medical mystery. N Engl J Med. 2001;344:1057.

(2) Albrecht H. Ueber ochronose. Zeitschrift fur Heilkunde. 1902;23:366.

(3) Osler W. Ochronosis: the pigmentation of cartilages, sclerotics, and skin in alkaptonuria. Lancet 1904;i:10-11.

(4) La Du BN. Alkaptonuria. Chapter 39 (pages 1371-1386) in: The Metabolic Basis of Inherited Disease. 7th ed. Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York: McGraw-Hill, 1995.