Ochronosis Presenting as Methemoglobinemia
| Autor: | Joseph H. Yanta, Sarah B Hugar, Jeffrey S. Nine, Joshua M. Shulman |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
medicine.medical_treatment Methemoglobinemia 01 natural sciences Skin Discoloration Methemoglobin Alkaptonuria Pathology and Forensic Medicine 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine hemic and lymphatic diseases Genetics medicine Argyria 030216 legal & forensic medicine Homogentisic acid Renal replacement therapy Ochronosis business.industry 010401 analytical chemistry medicine.disease Dermatology 0104 chemical sciences chemistry business |
| Zdroj: | Journal of Forensic Sciences. 64:913-916 |
| ISSN: | 1556-4029 0022-1198 |
| DOI: | 10.1111/1556-4029.13907 |
| Popis: | Ochronosis is the blue-gray discoloration of collagen-containing tissues due to homogentisic acid (HGA) deposition, secondary to endogenous alkaptonuria or exogenous enzyme inhibition. In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease and anemia presented with 3 days of weakness and months of gray skin discoloration. Her hemoglobin was 8.1g/dl with 24.5% methemoglobin. Despite treatment with methylene blue, exchange transfusion, and continuous renal replacement therapy, the patient died. Autopsy revealed gray discoloration and ochronotic pigment in the ribs and cartilage. Based on these findings, the patient was diagnosed with ochronosis, suggestive of alkaptonuria, complicated by methemoglobinemia. The differential diagnosis for blue-gray skin discoloration includes argyria, methemoglobinemia, and ochronosis. This patient's clinical and autopsy findings suggested alkaptonuria complicated by methemoglobinemia due to progressive renal dysfunction. Development of methemoglobinemia in the setting of chronic skin discoloration and renal failure should prompt consideration of alkaptonuria. |
| Databáze: | OpenAIRE |
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