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Alkaptonuric ochronosis presenting as palmoplantar pigmentation
M Vijaikumar1, D M Thappa, S Srikanth
1Department of Dermatology and STD, Department of Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), India.
Clinical and Experimental Dermatology
|September 6, 2000
Summary
Alkaptonuric ochronosis, a rare genetic disorder, can manifest with skin changes like palmoplantar pigmentation. This case highlights a rare presentation of alkaptonuria with these specific skin findings.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Alkaptonuria is a rare autosomal recessive metabolic disorder.
- It results from deficiency of the enzyme homogentisate 1,2-dioxygenase.
- This leads to accumulation of homogentisic acid (HGA).
Observation:
- A 37-year-old woman presented with a 4-year history of palmoplantar pigmentation, thickening, and pitting.
- Ocular findings included bluish pigmented patches on the sclera.
- Radiographic examination revealed calcification of lumbar intervertebral discs.
Findings:
- Urine analysis showed a positive Benedict's test and darkened upon alkalinization, indicative of HGA.
- Histopathology of palmar lesions revealed collagen degeneration and deposition of ochre-colored pigment in the dermis.
- The clinical and histological findings confirmed the diagnosis of alkaptonuric ochronosis.
Implications:
- This case represents a rare presentation of alkaptonuria with prominent palmoplantar pigmentation.
- It underscores the importance of considering metabolic disorders in dermatological diagnoses.
- Further research into the pathogenesis of ochronosis in alkaptonuria is warranted.