An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report
DOI:
https://doi.org/10.51253/pafmj.v73i6.9174Keywords:
Alkaptonuria, Endogenous ochronosis, Palmoplantar pigmentationAbstract
Palmoplantar pigmentation is a rare clinical presentation of alkaptonuria, a rare inborn error of phenylalanine and tyrosine
metabolism. Alkaptonuria occurs owing to a deficiency of an enzyme homogentisic acid oxidase inherited as an autosomal
recessive disorder. We report a case of alkaptonuria, which presented with palmoplantar pigment pigmentary nail changes
and the involvement of the spine and joints. He was advised of ascorbic acid along with symptomatic management and
detailed counselling.
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