Palmar pigmentation: An unusual presentation of alkaptonuria

Alkaptonuria (AKU) is a rare inherited autosomal recessive metabolic disorder, caused by the deficiency of homogentisic acid oxidase enzyme. Herein, we are reporting a case of AKU with bilaterally symmetrical palmar pigmentation and skeletal involvement. Histopathological examination revealed ochre...

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Bibliographic Details
Published in:Pigment international (Online) 2016-01, Vol.3 (1), p.49
Main Authors: Kumar, H. V S, Hiremath, C, Sree, N, Rao, A
Format: Article
Language:English
Subjects:
Alkaptonuria
Care and treatment
Case studies
Diagnosis
Pigmentation disorders
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Summary:Alkaptonuria (AKU) is a rare inherited autosomal recessive metabolic disorder, caused by the deficiency of homogentisic acid oxidase enzyme. Herein, we are reporting a case of AKU with bilaterally symmetrical palmar pigmentation and skeletal involvement. Histopathological examination revealed ochre colored pigment in the dermis whereas roentgenogram of the lumbar spine showed typical calcification of the intervertebral discs.
ISSN:2349-5847
2349-5847
DOI:10.4103/2349-5847.184245