Alkaptonuria with asymmetric otologic involvement: a case report
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چکیده
منابع مشابه
Alkaptonuria: A case report
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...
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Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He al...
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Pemphigus foliaceus is an autoimmune blistering condition more often than not associated with generalized lesions. Localized Pemphigus foliaceus is a rare entity. Herein, we report a case of pemphigus foliaceus localized on the face. A 64-year-old woman was referred to our clinic with a 2-year history of erythematous plaque on the right side of her face. The histology report was compatible with...
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Statement of the problem: Nowadays leishmaniasis is a common infectious disease around the world which is caused by a protozoan parasite named Leishmania. This parasite is transmitted to human by an infected female sand fly. This disease has three clinical forms; mucosal forms are rare in Iran. Purpose: The purpose of this study was to report a case of leishmaniasis with lip and oral mucosal in...
متن کاملAlkaptonuria – Case Report and Review of Literature
ALKAPTONURIA (AKU) is a rare inherited genetic disorder of tyrosine metabolism characterized by the triad of homogentisicaciduria, ochronosis and arthritis. It is one of the conditions in which Mandelian recessive inheritance was proposed.1 It was also one of the four inborn errors of metabolism described by Garrod in his croonian lectures of 1908.2 The clinical manifestations are that urine tu...
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ژورنال
عنوان ژورنال: Brazilian Journal of Otorhinolaryngology
سال: 2021
ISSN: 1808-8694
DOI: 10.1016/j.bjorl.2021.03.008