Ochronotic arthropathy: case report and review of the literature.
Alkoptonuria is an inherited metabolic disorder which is associated with various systemic abnormalities and related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed "ochronosis". We describe two patients with ochronotic arthropathy who presented with progressive and advanced degenerative changes in the lumbo-sacral spine. The literature, differential diagnosis and management of this rare condition are reviewed in this article. Management is usually conservative, but replacement surgery may be offered for severely affected major joints.
Hamdi
N
N
Department of Orthopaedic Surgery, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Cooke
T D
TD
Hassan
B
B
D000328:Adult; D017668:Age of Onset; D001168:Arthritis / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D003937:Diagnosis, Differential; D018450:Disease Progression; D006801:Humans; D017116:Low Back Pain / Q000209:etiology*; D008159:Lumbar Vertebrae; D008279:Magnetic Resonance Imaging; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009794:Ochronosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D026741:Physical Therapy Modalities; D012447:Sacrum; D013122:Spinal Diseases / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy