Indian Journal of Dermatology

Year
: 2004  |  Volume : 49  |  Issue : 3  |  Page : 149--153

Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria


Vikram K Mahajan1, Nand Lal Sharma2, Ravi S Yadav3 
1 
2 
3 

Correspondence Address:
Vikram K Mahajan


Alkaptonuria is a rare, autosomal recessive disorder of phenylalanin/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. The diagnosis is clinical and the triad of homogentisic aciduria, ochronosis and precocious degenerative arthritis is characteristic. Its diagnosis in infancy and early therapeutic intervention help delaying its complications. These patients may remain undiagnosed until the darkening of urine soaked diapers is noticed or the early degenerative arthropathy develops. This paper describes two cases of alkaptonuria presenting late in life; one of them had associated hyperthyroidism.


How to cite this article:
Mahajan V, Sharma N, Yadav R. Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria.Indian J Dermatol 2004;49:149-153


How to cite this URL:
Mahajan V, Sharma N, Yadav R. Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria. Indian J Dermatol [serial online] 2004 [cited 2022 May 25 ];49:149-153
Available from: https://www.e-ijd.org/article.asp?issn=0019-5154;year=2004;volume=49;issue=3;spage=149;epage=153;aulast=Mahajan;type=0