Correspondence

Medical Mystery: The Answer

N Engl J Med 2001; 344:1642-1643May 24, 2001

Article

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 1AFigure 1A Woman with Alkaptonuric Ochronosis.), 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 β–melanocyte-stimulating hormone was increased by a factor of six as compared with values in controls; there was no other sign of endocrine dysregulation.

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

1 References

1. 1

   Nikkels AF, Pierard GE. A medical mystery. N Engl J Med 2001;344:1057-1057
   Full Text | Web of Science | Medline

Citing Articles (2)

Citing Articles

1. 1

   Vikas Sharma, Yap Yew Chong, Alan Kosmin. (2007) Alkaptonuria Presenting with Conjunctival Lesion. Comprehensive Therapy 33:2, 71-72
   CrossRef

2. 2

   Vikas Sharma, Yew Chong Yap, Alan Kosmin. (2007) Alkaptonuria Presenting with Conjunctival Lesion. Annals of Ophthalmology 39:2, 150-151
   CrossRef