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Alkaptonuria is a rare metabolic disorder caused by deficiency of homogentisate dioxygenase; which
leads to deposition of homogentisic acid which gets deposited in connective tissue as a melanin like pigment. We
had a female patient who presented to us with abnormal pigmentation on her face and hands which was not
cosmetically acceptable to her. Upon exploring, she had a history of darkening of urine. Her skin biopsy
demonstrated fragmented collagen and deposits of pigment in connective tissue. Subsequently she was found to
have high levels of homogentisic acid in urine. We recommend that every case of abnormal hyperpigmentation
should be looked for the possibility of alkaptonuria.
Dr. Shawana Sharif, Anwar-Ul-Haque. (2017) An Unusual Case of Pigmentation of Face and Hands, , Vol-15, Issue 1.
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