Dermatology Grand Rounds at the NIH
Blue pigmentation and arthritis in an elderly man

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History

A 73-year-old man was admitted to the National Institutes of Health (NIH) Clinical Center, Bethesda, Md, in August 2004 with a history of blue pigmentation of his skin and long-standing arthritis. He first noticed an asymptomatic progressive blue discoloration involving his ears in his 30s. Severe arthritis in his large joints also began in his fourth decade for which he had bilateral hip, knee, and ankle replacements. His first hip replacement was performed at age 57 years. At the time of

Discussion

Alkaptonuria is a rare autosomal recessive disorder with an estimated incidence of 1 in every 250,000 to 1 million live births.1 Alkaptonuria is caused by mutations in the HGA dioxygenase (HGD) gene that encodes HGD, an enzyme in the tyrosine degradation pathway. HGD converts HGA to maleylacetoacetic acid. Absence of HGD results in massive accumulation of HGA and its oxidative products in connective tissue and urine. The oxidation products of HGA, including benzoquinoneacetic acid, are

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References (9)

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Cited by (9)

  • Cutaneous deposits

    2009, Weedon's Skin Pathology: Third Edition
  • Endogenous ochronosis: A case description

    2005, Actas Dermo-Sifiliograficas
  • Alkaptonuria - More than meets the eye

    2013, Medical Journal of Malaysia
  • Endogenous ochronosis with a fatal outcome

    2012, Journal of Cutaneous Medicine and Surgery
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Funding sources: None.

Dr Spenny evaluated this patient during an elective rotation in the Dermatology Branch at the National Institutes of Health. She is currently a dermatology resident at the Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.

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