descriptionPublicationkeyboard_double_arrow_right Article 01 Mar 2001 English Publisher:WileyJournal:The Journal of Dermatology, volume 28, pages 158-160 (issn: 0385-2407, eissn: 1346-8138,

Authors: Erdem, T; Cetinkaya, R; Selcuk, Y; Karakuzu, A; Odabas, AR;

doi: 10.1111/j.1346-8138.2001.tb00111.x

pmid: 11349468

Alkaptonuria: A Case Report

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Abstract

AbstractAlkaptonuria 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.

Related Organizations

Atatürk University
Turkey

Keywords

Adult, Diagnosis, Differential, Radiography, Calcinosis, Humans, Female, Spinal Diseases, Ear Cartilage, Alkaptonuria, Ochronosis

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