Alkaptonuria.
Gk Tharini1, Vidhya Ravindran, N Hema
1Department of Dermatology, Madras Medical College, Chennai, India.
Indian Journal of Dermatology
|July 1, 2011
Summary
Alkaptonuria, a rare autosomal recessive disorder, typically presents with specific symptoms. This case highlights a patient with alkaptonuria who also exhibited unusual palmar pigmentation.
Area of Science:
- Medical Genetics
- Metabolic Disorders
- Dermatology
Background:
- Alkaptonuria (AKU) is an inherited metabolic disorder.
- It is characterized by autosomal recessive inheritance.
- AKU results from a deficiency in the enzyme homogentisate 1,2-dioxygenase.
Purpose of the Study:
- To report a rare case of alkaptonuria.
- To describe an unusual clinical manifestation in a patient with AKU.
Main Methods:
- Case report.
- Clinical observation.
Main Results:
- The patient presented with the typical features of alkaptonuria.
- An additional, uncommon finding of palmar pigmentation was observed.
Conclusions:
- This case expands the known clinical spectrum of alkaptonuria.
- Palmar pigmentation may be a feature of alkaptonuria, warranting further investigation.
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