Alkaptonuria: A case report

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

JOURNAL OF DERMATOLOGY, cilt.28, sa.3, ss.158-160, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 3
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1111/j.1346-8138.2001.tb00111.x
  • Dergi Adı: JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.158-160
  • Anahtar Kelimeler: akaptonuria, homogenitisic acid, metabolic disorder, ochronosis
  • Akdeniz Üniversitesi Adresli: Hayır

Özet

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.