scholarly journals Sequential tendon ruptures in ochronosis: case report

2017 ◽  
Vol 3 (6) ◽  
pp. 1235
Author(s):  
E. G. Mohan Kumar ◽  
G. M. Yathisha Kumar
Keyword(s):  
Connective Tissue ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Degradation Pathway ◽  
Homogentisic Acid ◽  
The Body ◽  
Acid Oxidase ◽  
Connective Tissues ◽  
Dark Pigmentation ◽  
Tendon Ruptures

<p>Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in the connective tissues leading to dark pigmentation of connective tissue in patients with alkaptonuria. HGA deposits in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Only few cases are reported in the literature with multiple tendon rupture but many case reports are available with isolated rupture of tendons. We report on a patient with sequential tendon ruptures in a patient. The case is reported for its rarity.</p>

Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease

2021 ◽  
Vol 14 (12) ◽  
pp. e244240
Author(s):  
Ryan Curtis Roopnarinesingh ◽  
Noel Edward Donlon ◽  
John V Reynolds
Keyword(s):  
Rare Disease ◽  
Enzymatic Degradation ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Cartilage Destruction ◽  
Homogentisic Acid ◽  
Connective Tissues ◽  
Tendon Ruptures ◽  
Published Research

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA deposits in connective tissues resulting in pigmentation (ochronosis), plaque formation and accelerated cartilage destruction. With this, many patients who suffer from AKU develop ochronotic arthropathies, tendon ruptures, fractures, and chronic joint pain. Similarly, patients can develop cardiac valvular dysfunction and interstitial renal disease. Our two cases highlight the array of pathologies seen in AKU and, in light of newly published research, give us a platform from which we can discuss the developments in management of this rare disease.

Autoimmune connective tissue diseases

2013 ◽  
Vol 6 (3) ◽  
pp. 159-171
Author(s):  
Ishita Patel ◽  
Alia Ahmed
Keyword(s):  
Primary Care ◽  
Connective Tissue ◽  
Connective Tissue Diseases ◽  
The Body ◽  
Diverse Group ◽  
Connective Tissues

Connective tissue diseases are a rare and diverse group of disorders that result in pathology of the connective tissues of the body. This article focuses on the systemic autoimmune connective tissue diseases, and aims to provide a practical overview of these conditions for use in primary care.

Biomechanics of the lung parenchyma: critical roles of collagen and mechanical forces

2005 ◽  
Vol 98 (5) ◽  
pp. 1892-1899 ◽  
Author(s):  
Béla Suki ◽  
Satoru Ito ◽  
Dimitrije Stamenović ◽  
Kenneth R. Lutchen ◽  
Edward P. Ingenito
Keyword(s):  
Mechanical Properties ◽  
Connective Tissue ◽  
Large Scale ◽  
Structural Integrity ◽  
Lung Parenchyma ◽  
The Body ◽  
Biological Macromolecules ◽  
Mechanical Forces ◽  
Connective Tissues ◽  
Architectural Organization

The biomechanical properties of connective tissues play fundamental roles in how mechanical interactions of the body with its environment produce physical forces at the cellular level. It is now recognized that mechanical interactions between cells and the extracellular matrix (ECM) have major regulatory effects on cellular physiology and cell-cycle kinetics that can lead to the reorganization and remodeling of the ECM. The connective tissues are composed of cells and the ECM, which includes water and a variety of biological macromolecules. The macromolecules that are most important in determining the mechanical properties of these tissues are collagen, elastin, and proteoglycans. Among these macromolecules, the most abundant and perhaps most critical for structural integrity is collagen. In this review, we examine how mechanical forces affect the physiological functioning of the lung parenchyma, with special emphasis on the role of collagen. First, we overview the composition of the connective tissue of the lung and their complex structural organization. We then describe how mechanical properties of the parenchyma arise from its composition as well as from the architectural organization of the connective tissue. We argue that, because collagen is the most important load-bearing component of the parenchymal connective tissue, it is also critical in determining the homeostasis and cellular responses to injury. Finally, we overview the interactions between the parenchymal collagen network and cellular remodeling and speculate how mechanotransduction might contribute to disease propagation and the development of small- and large-scale heterogeneities with implications to impaired lung function in emphysema.

scholarly journals SPONTANEOUS ACHILLES TENDON RUPTURE - A CASE OF OCHRONOSIS

2013 ◽  
Vol 03 (03) ◽  
pp. 113-115 ◽  
Author(s):  
Sanath Kumar Shetty ◽  
Raj Sankar N. R. ◽  
Nirmal Babu P. ◽  
Lawrence J. Mathias ◽  
Shubha P. Bhat ◽  
...  
Keyword(s):  
Achilles Tendon ◽  
Spontaneous Rupture ◽  
Autosomal Recessive ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
Autosomal Recessive Disorder ◽  
Intervertebral Discs ◽  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Articular Cartilages

AbstractAlkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase and the subsequent accumulation of homogentisic acid, a metabolic product of the aromatic aminoacids phenylalanine and tyrosine; which is deposited in articular cartilages, intervertebral discs, sclera, tympanic membrane, tendons and ligaments leading to their degeneration. Here we describe a case of spontaneous rupture of Achilles tendon1,2,3 due to Ochronosis.

scholarly journals KOMPONEN SEL JARINGAN IKAT

2014 ◽  
Vol 6 (3) ◽  
Author(s):  
Sunny Wangko ◽  
Ronny Karundeng
Keyword(s):  
Connective Tissue ◽  
Special Functions ◽  
The Body ◽  
Main Function ◽  
Connective Tissues ◽  
Intercellular Matrix ◽  
Tissue Cells ◽  
General Difference

Abstract: Connective tissue is distributed in all parts of the body and its main function is to connect cells and tissues. Most of the embryonic connective tissues are derived from embryonal messenchymal tissues. There are a variety of connective tissues which are compatible with their functions and locations. The general difference of all connective tissues is the arrangement and composition of intercellular matrix. Connective tissues are composed of two major components: cells and intercellular matrices. Connective tissue cells, fixed cells or wandering cells, have their special functions which support each other to maintain the optimal histophysiology of the connective tissue.Keywords: connective tissues, cells, histophysiologyAbstrak: Jaringan ikat tersebar luas di seluruh bagian tubuh dengan fungsi utama untuk menghubungkan berbagai komponen sel atau jaringan. Hampir seluruh jaringan ikat embriologik berasal dari jaringan mesensimal embrional. Terdapat berbagai jenis jaringan ikat yang sesuai dengan fungsi dan lokasinya. Perbedaan utama dari berjenis-jenis jaringan ikat tersebut berdasarkan susunan dan komposisi matriks intersel. Jaringan ikat terdiri dari dua komponen dasar utama yaitu sel dan matriks intersel. Sel-sel jaringan ikat baik yang tetap maupun yang bebas mempunyai fungsi khusus masing-masing yang saling melengkapi untuk mempertahankan keutuhan histofisiologi jaringan ikat.Kata kunci: jaringan ikat, sel, histofisiologi

scholarly journals VITAL STAINING OF THE CONNECTIVE TISSUES

1938 ◽  
Vol 68 (1) ◽  
pp. 63-72 ◽  
Author(s):  
Lester S. King
Keyword(s):  
Connective Tissue ◽  
Trypan Blue ◽  
Vital Staining ◽  
The Body ◽  
Elastic Fibers ◽  
Blue Color ◽  
Connective Tissues ◽  
Connective Tissue Matrix ◽  
Tissue Matrix ◽  
Special Case

Trypan blue injected intravenously is bound almost at once by the intercellular connective tissue elements all over the body,—by collagen, reticulin, and elastic fibers. This union of dye and tissue elements is the factor responsible for the early macroscopic blue color and is antecedent to cellular colloidopexic action. Different examples of connective tissue differ among themselves in their ability to hold the dye. Diffuse staining of elastic fibers noted by previous observers is merely a special case of the general affinity of connective tissue for the dye. The evidence suggests that the histiocytes are cells specialized to segregate noxae that become diffusely bound to the intercellular connective tissue matrix.

Black-Colored Ligamentum Flavum Due to Alkaptonuria

2018 ◽  
Vol 80 (02) ◽  
pp. 131-133 ◽  
Author(s):  
Seyho Yucetas ◽  
Necati Ucler
Keyword(s):  
Metabolic Disease ◽  
Heart Valves ◽  
Ligamentum Flavum ◽  
Homogentisic Acid ◽  
Neurogenic Claudication ◽  
Acid Oxidase ◽  
Auricular Cartilage ◽  
Connective Tissues ◽  
Decompressive Laminectomy ◽  
Black Discoloration

AbstractAlkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. The word ochronosis refers to the dark bluish-black discoloration of connective tissues including the sclera, cornea, auricular cartilage, heart valves, articular cartilage, tendons, and ligaments. Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. In this article, we present a 71-year-old male patient with alkaptonuria-associated degenerative L3–L4–L5 stenosis, diagnosed after lumbar decompressive laminectomy.

Ochronosis, the Rare Cause of Herniation of a Disc: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 161-166
Author(s):  
Ali Baradaran Bagheri ◽  
◽  
Farsad Biglari ◽  
Somayeh Soroureddin ◽  
Salman Azarsina ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Genetic Disorder ◽  
Radicular Pain ◽  
Homogentisic Acid ◽  
The Body ◽  
Leg Pain ◽  
Cartilage Tissue ◽  
Acid Oxidase ◽  
Oxidase Deficiency ◽  
Progressive Muscle Weakness

Background and Importance: Alkaptonuria is a rare genetic disorder due to homogentisic acid oxidase deficiency which eventuates in the reposition of homogentisic acid in different parts of the body and multi-organ involvements. The characteristic bluish-black discoloration of the skin and cartilage tissue is known as ochronosis. Case Presentation: Herein, we reported a 45-year-old woman with chronic pain in the lumbar area and radicular pain in her left leg, aggravating gradually during the previous six months before the operation. She also suffered from progressive muscle weakness in her left lower extremity. The patient was operated for prolapsed disc herniation. Macroscopically, no abnormality of the skin, muscles, or ligaments was observed during surgery. After incision of the annulus in level L3-L4, surprisingly the excised nucleus pulposus was black. The alkaptonuria was diagnosed after histopathological examination of the black disc material and confirmed by urinalysis. Conclusion: The postoperative course was uneventful and the patient was free from low back pain and leg pain after surgery. In patients without any manifestations of alkaptonuria or ochronosis such as our case, timely diagnosis of this pathologic condition is momentous for investigation, treatment, and prevention of other organs’ involvement.  

scholarly journals BLACK HIP-A CASE OF OCHRONOTIC ARTHROPATHY

2011 ◽  
Vol 01 (04) ◽  
pp. 38-39
Author(s):  
Lawrence J. Mathias ◽  
Michelle Mathias ◽  
Padma Shetty ◽  
Ravindranath Rai
Keyword(s):  
Articular Cartilage ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Acid Oxidase ◽  
Connective Tissues ◽  
Ochronotic Arthropathy

Abstractalkaptonuria an autosomal recessive disorder in which a deficiency of homogentessic acid oxidase results in the accumulation of homogentessic acid which is deposited in connective tissues notably in the intervertebal disc,articular cartilage and tendons leading to their early degeneration.Here we describe a case of ochronotic arthropathy

Electron Microscopic and Isozyme Study of a Case of Ochronosis

1972 ◽  
Vol 30 ◽  
pp. 88-89
Author(s):  
Jay W. Cha ◽  
Perry J. Melnick
Keyword(s):  
Benzene Ring ◽  
Enzyme System ◽  
Homogentisic Acid ◽  
Degenerative Changes ◽  
Acid Oxidase ◽  
Electron Microscopic ◽  
Tyrosine Metabolism ◽  
Collagenous Tissues

Hereditary ochronosis in very few cases has been examined electron microscopically or histochemically. In this disease homogentisic acid, a normal intermediary of tyrosine metabolism, forms in excessive amounts. This is believed to be due to absence or defective activity of homogentisic acid oxidase, an enzyme system necessary to break the benzene ring and to further break it down to fumaric and acetoacetic acids. Ochronotic pigment, a polymerized form of homogentisic acid, deposits mainly in mesenchymal tissues. There has been a question whether the pigment originates from the collagenous tissues, or deposits passively, where in contrast to melanin it induces degenerative changes.

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