Alkaptonuria: A case report
JOURNAL OF DERMATOLOGY, cilt.28, sa.3, ss.158-160, 2001 (SCI-Expanded, Scopus)
- 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
- Atatürk 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.