Alkaptonuria: A case report


ODABAŞ A. R. , Karakuzu A., Selcuk Y., Cetinkaya R., Erdem T.

JOURNAL OF DERMATOLOGY, vol.28, no.3, pp.158-160, 2001 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 3
  • Publication Date: 2001
  • Doi Number: 10.1111/j.1346-8138.2001.tb00111.x
  • Title of Journal : JOURNAL OF DERMATOLOGY
  • Page Numbers: pp.158-160

Abstract

Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the, tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.