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Klinisk blick för blåa öron ledde till rätt diagnos: alkaptonuri
Engelsk titel: Clinical eye for blue-coloured ears lead to correct diagnosis: alkaptonuria Läs online Författare: Aldenbratt, Anette ; Rosen, Karin ; Eggertsen, Robert Språk: Swe Antal referenser: 6 Dokumenttyp: Fallbeskrivning UI-nummer: 10111069

Tidskrift

Läkartidningen 2010;107(44)2718-9 ISSN 0023-7205 E-ISSN 1652-7518 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

Some diseases could be diagnosed or suspected because of its typical appearance already during the medical examination. Alkaptonuria is characterized by ochronosis leading to a bluish-black pigmentation in various connective tissues. This could be seen especially on the external ear but is also prominent in sclera and skin. The urine and sweat are dark brown pigmented leading to discoloured underwear. We report of a 44 year old man, which had been suffering for many years of joint pain. The correct diagnosis was set when the physician noted his blue-coloured ears and made a further investigation with urine tests. Alkaptonuria is a rare autosomal recessive disease known since pharaoh time. In spite of typical outer signs the diagnosis often is delayed. It is important with an early diagnosis in order to start prophylactic treatment to the different complications that will occur later.