Alkaptohuria, a rare inherited disorder: a case report and review of literature

Abstract

A 70 year old male patient from Erbil city, Iraq, complaining of gradually increasing pain and stiffness in the lower back over the last 50 years. He consulted many doctors and was misdiagnosed as having (prolapsed disc, Ankylosing spondylitis, Osteoarthritis). He was put on analgesics, anti-inflammatory drugs, hard bed .It gave him some relief but the pain and stiffness recurred again over a large area of the spine on stopping the treatment. For the past 20 years, the patient had pain in his hip joints too. There was no history of fever, trauma, oral ulcers, acute abdominal pain, dysuria or recurrent diarrhea. The urine had normal color when voided but the patient has also had brownish black staining of underwear since childhood. 
Examination revealed undernourished patient with bluish discoloration of face (Fig 1) & both index fingers, pigmentation of both eyes sclera &ear (Fig 2), no anemia, cyanosis, jaundice or edema of the feet 
Tenderness was positive over the lumbar spine with marked limitation of movements. schober test were positive and movements at both the hip joints were limited, and painful. There is decreased in chest expansion at respiration. Marked restriction in rang of movement at both shoulders &knee joints with cripitus.