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Previous Volume 344:1642-1643 May 24, 2001 Number 21 Next

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The medical mystery in the April 5 issue¹ involved an 82-year-old woman with alkaptonuric ochronosis. Alkaptonuria is a rare inherited deficiency of homogentisic acid oxidase, leading to the accumulation of homogentisic acid in various tissues. Ochronosis refers to the characteristic cutaneous and cartilaginous blue-black deposits. This patient had no particular medical history other than a unilateral hip replacement. The diagnosis of alkaptonuric ochronosis was only established when the patient was 82 years old, at which time she was referred to a dermatologist. The main features of the disorder are cervical arthropathy with intervertebral calcification (Figure 1A), kyphosis, and ankylosis; yellow-brown dermal deposits of polymerized homogentisic acid (Figure 1B); cutaneous and subungual ochronosis of the thumb (Figure 1C); urine that turns black after six hours because of oxidation (Figure 1D); and brown-black pigmentation of the face (Figure 1E). This patient also had focal dark pigmentation of the sclera. The level of serum –melanocyte-stimulating hormone was increased by a factor of six as compared with values in controls; there was no other sign of endocrine dysregulation.

View larger version (57K): [in this window] [in a new window]   Figure 1. A Woman with Alkaptonuric Ochronosis.

 

Arjen F. Nikkels, M.D., Ph.D.
Gérald E. Piérard, M.D., Ph.D.
University of Liège
B-4000 Liège, Belgium

Editor's note: We received 755 responses to the medical mystery. About 43 percent of the respondents said that the woman had alkaptonuric ochronosis. The next most common explanation, suggested by 23 percent of respondents, was that the patient had melanoma. Another common answer, suggested by 22 percent of respondents, was porphyria or porphyria cutanea tarda. Other responses included paroxysmal nocturnal hemoglobinuria and ingestion of arsenic or silver.

References

1. Nikkels AF, Piérard GE. A medical mystery. N Engl J Med 2001;344:1057-1057. [Free Full Text]

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This article has been cited by other articles:

• Fisher, A. A., Davis, M. W. (2004). Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review. Clin Med Res 2: 209-215 [Abstract] [Full Text]