[2 cases of ochronosis in a family].

Srp Arh Celok Lek

Published: September 1966

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Ochronotic Arthropathy of the Shoulder - A Rare Case Report.

J Orthop Case Rep

January 2025

Department of Orthopaedics, Apollo Adlux Hospital, Angamali, Kochi, Kerala, 683576, India.

Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature.

Case Report: We report a 31-year-old male who presented with shoulder pain for 4 months.

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Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.

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Article Synopsis
  • - Disorders of hyperpigmentation are common and hydroquinone is a widely used treatment, despite potential side effects like acne, skin discoloration (ochronosis), and irritation.
  • - Rarely, hydroquinone can cause leukoderma, typically limited to the area where it is applied, but a unique case is reported involving widespread facial leukoderma from localized use.
  • - The reported leukoderma can be effectively treated using methods for vitiligo, if addressed promptly and correctly.
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Article Synopsis
  • Alkaptonuria is a rare genetic disorder inherited in an autosomal recessive manner, caused by a mutation in the homogentisic acid dioxygenase gene, affecting 1 in 100,000 to 250,000 people globally.
  • The condition leads to a buildup of homogentisic acid, causing joint and connective tissue issues, resulting in blue-black discoloration known as ochronosis.
  • A 47-year-old male patient experienced worsening symptoms despite treatments like physiotherapy and vitamin C, compounded by the unavailability of the more effective drug nitisinone in his country; the case underscores the need for improved treatment access and serves as a comparison to other reported cases.
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Disc-coloration of an ochronotic cervical intervertebral disc in a patient with alkaptonuria: Case report and review of the literature.

Clin Neurol Neurosurg

July 2024

Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.

Article Synopsis
  • Alkaptonuria is a rare genetic disorder leading to the buildup of homogentisic acid, causing tissue damage and notable symptoms like ochronosis and spinal issues, particularly affecting the lumbar and occasionally cervical spine.
  • A literature review was conducted on cervical spine changes in alkaptonuria patients, alongside the case of a 46-year-old with severe cervical spinal canal stenosis who underwent surgery for it.
  • The study found no visible abnormalities during surgery except for a black discoloration of the intervertebral disc, indicating that such discoloration could signal potential alkaptonuria and warrant further investigation.
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