Case Report: Alkaptonuric Ochronosis Superim- posed With Septic Arthritis in a Middle-aged Man (original) (raw)
Related papers
Alkaptonuric Ochronosis Superimposed With Septic Arthritis in a Middle-aged Man
2020
Alkaptonuria is a rare inborn metabolic disease, in which an enzymatic deficiency accumulates alkapton in different tissues, causing darkness and injury, especially in spine and large cartilages, called ochronosis. The urine darkness can be a key to early diagnosis in childhood, but some cases are missed until adulthood and gradual damage to cartilages causes disability and impairs the patients’ quality of life. Here, a 49-year old male patient is presented with a 2 week history of left knee pain and swelling, who underwent arthrotomy, and the macro- and microscopic evaluation revealed ochronosis, superimposed by septic arthritis. Diagnosis of this rare disease should be considered in differential diagnoses of common joint disorders, like septic arthritis and osteoarthritis, so that appropriate management of the disease can prevent further damages.
Alkaptonuria, ochronosis, and ochronotic arthropathy
Seminars in Arthritis and Rheumatism, 2004
Objectives: To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition.
Ochronotic arthropathy-a rare clinical case
Oxford medical case reports, 2018
Ochronotic arthropathy is a rare condition found in patients with alkaptonuria that results from the accumulation of ochronotic pigment. We present the case of a 65-year-old woman who presented for medical evaluation due to hip and knee chronic pain. The physical and radiographic findings were compatible with an end-stage hip osteoarthritis and knee osteoarthritis. During total hip arthroplasty it was noticed that the articular capsule and the cartilage of the femoral head were black. In the postoperative period she was diagnosed with alkaptonuria. Later, a total knee arthroplasty was performed and once more the presence of black cartilage was noted. Alkaptonuria usually appears after age 30 and is usually asymptomatic until the involvement of the spine, hip, knee and shoulder joints. Therefore, orthopaedic surgeons must be suspicious of an atypical arthropathy in order to not be overwhelmed during surgery with the presence of darkened cartilage.
Knee ochronotic arthropathy and arthroscopic findings
Acta Orthopaedica et Traumatologica Turcica, 2009
Okronotik artropati, alkaptonürili olgularda nadir görülen bir patolojidir. Alkaptonuri, homogentisik asit oksidaz enzim eksikliğine bağlı olarak homogentisik asit pigmentinin kıkırdak, menisküs, ligamanlar ve değişik dokularda birikmesiyle bulguların ortaya çıktığı, herediter metabolik bir hastalıktır. Bu pigmenter değişiklikler okronozis olarak adlandırılır. Bu yazıda, diz yakınmaları sonucu yapılan diz artroskopisi sırasında menisküs ve kıkırdaklarda kahverengi-siyah renk değişimi saptanan ve ileri araştırmalarla alkaptonüri tanısı konan 50 yaşında bir kadın hasta sunuldu.
Ochronotic Arthropathy Two Case Reports from a Developing Country
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is due to the lack of an enzyme homogentisate 1,2-dioxygenase, which results in an accumulation of homogentisic acid in different areas of the body, including sclera, skin, cardiac valves, articular cartilage of the large joints and intervertebral disks. We present two cases of alkaptonuria resulting in ochronotic arthropathy with advanced secondary generalized osteoarthritis, intervertebral disk calcifications, skin and scleral pigmentation. In these case reports, both patients had symptoms for .10 years before being diagnosed. Conservative management in the form of high-dose ascorbic acid, exercises, and gait aids was offered to both of them, which resulted in some symptomatic improvement in the first case, while the second case was lost to follow-up. Alkaptonuria is a rare disease, and although it does not clearly impact mortality, early diagnosis may improve the quality of life.
Ochronotic Arthropathy with Severe Articular Involvement Necessitates Total Joint Replacement
HIP International, 2006
The aim of this paper is to describe the pathological and clinical features of alkaptonuria (AKU). AKU clinical presentation is identified as ochronosis, the dark pigmentation of skin and cartilage that is caused by progressive accumulation of homogentisic acid (HGA) in connective tissues. We also discuss surgical considerations about joint replacement, which represents the only treatment in the case of severe articular degeneration. We report the case of a middle-aged female with both hip and knees affected. She underwent bilateral hip replacement and right knee arthroplasty. Preoperatively, the patient was examined clinically. Harris Hip Score (HHS) and Hospital for Special Surgery score (HSS) were completed for both hips, and for the right knee. Radiographs were made of both hips and the knee, in different projections. HHS for the left and right sides at the latest follow-up (11 and 9 years after surgery respectively) were 98 and 95. HSS 3.5 years after surgery was 97. Alkaptonur...
Alkaptonuria and ochronosis: Case report and review
Journal of the American Academy of Dermatology, 1992
Alkaptonuria is a rare genetic disorder in which the enzyme homogentisic acid oxidase is deficient, resulting in the accumulation of homogentisic acid in various bodily tissues. This is a multisystem disorder with a characteristic blue-black discoloration of the skin and cartilage, which is termed ochronosis. Herein we report a profound case of ochronosis secondary to alkaptonuria. Furthermore, we review the clinical manifestations of alkaptonuria and discuss the spectrum of ochronosis, both endogenous and exogenous. (J AM Ac~ DERMATOL 1992;27:609-14.) Alkaptonuria is a rare inherited deficiency of homogentisic acid oxidase (HGAO). Abnormal quantities of homogentisic acid (HGA) accumulate in various tissues including skeletal, cardiovascular, genitourinary, respiratory, ocular, and cutaneous. Arthropathy and cardiac valvular disease are the primary physical disabilities. Polymerized HGA deposited in the dermis imparts the characteristic blue-black coloration seen in alkaptonuria. The term ochronosis is not specific for alkaptonuria; it refers to ochre-colored pigment deposition in connective tissue, including the skin. We report a profound case of alkaptonuria and discuss the pathogenesis and clinical manifestations. Furthermore, exogenous causes of cutaneous ochronosis, including hydroquinone, phenol, resorcinol, and antimalarial agents, are reviewed. CASE REPORT This 72-year-old white man came to the James A. Haley Veterans Administration Hospital for routine outpatient dermatologic evaluation. Medical history disclosed he had been diagnosed with alkaptonuria at 35 years of age when he sought medical care for back pain. Thirteen years earlier a prostalitheetomy revealed black calculi. The patient also noted that his urine would turn almost
Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition
Osteoarthritis and Cartilage, 2012
Objective: Alkaptonuria (AKU) is a rare genetic disease which results in severe early onset osteoarthropathy. It has recently been shown that the subchondral interface is of key significance in disease pathogenesis. Human surgical tissues are often beyond this initial stage and there is no published murine model of pathogenesis, to study the natural history of the disease. The murine genotype exists but it has been reported not to demonstrate ochronotic osteoarthropathy consistent with the human disease. Recent anecdotal evidence of macroscopic renal ochronosis in a mouse model of tyrosinaemia led us to perform histological analysis of tissues of these mice that are known to be affected in human AKU. Design: The homogentisate 1,2-dioxygenase Hgd þ/À Fah À/À mouse can model either hereditary tyrosinaemia type I (HT1) or AKU depending on selection conditions. Mice having undergone Hgd reversion were sacrificed at various time points, and their tissues taken for histological analysis. Sections were stained with haematoxylin eosin (H&E) and Schmorl's reagent. Results: Early time point observations at 8 months showed no sign of macroscopic ochronosis of tissues. Macroscopic examination at 13 months revealed ochronosis of the kidneys. Microscopic analysis of the kidneys revealed large pigmented nodules displaying distinct ochre colouration. Close microscopic examination of the distal femur and proximal fibula at the subchondral junctions revealed the presence of numerous pigmented chondrocytes. Conclusions: Here we present the first data showing ochronosis of tissues in a murine model of AKU. These preliminary histological observations provide a stimulus for further studies into the natural history of the disease to provide a greater understanding of this class of arthropathy.
A late and difficult diagnosis of ochronosis
Journal of medicine and life
Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. This causes the classic clinical triad: (1) homogentisic aciduria (urine blackens on standing when oxidized or alkalinized); (2) eumelanin-like pigmentation of skin, sclera, cartilages, etc and (3) degenerative ochronic arthropathies usually in the fourth decade of life. Other important but more rare consequences of alkaptonuric ochronosis are cardiovascular and urinary tract involvement. We present a case of ochronosis with multiple visceral involvement: skin (fingers, ear sclera), severe spondylarthropaty with extensive calcifications of intervertebral discs and reduced mobility, osteoarthritis of both knees, right hip ostonecrosis, cardiovascular involvement (severe stenosis and insufficiency of aortic valve that) and urinary tract involvement (nephrolitiasis)
2009
Okronotik artropati, alkaptonurili olgularda nadir gorulen bir patolojidir. Alkaptonuri, homogentisik asit oksidaz en- zim eksikligine bagli olarak homogentisik asit pigmenti- nin kikirdak, meniskus, ligamanlar ve degisik dokularda birikmesiyle bulgularin ortaya ciktigi, herediter metabolik bir hastaliktir. Bu pigmenter degisiklikler okronozis ola- rak adlandirilir. Bu yazida, diz yakinmalari sonucu yapi- lan diz artroskopisi sirasinda meniskus ve kikirdaklarda kahverengi-siyah renk degisimi saptanan ve ileri arastir- malarla alkaptonuri tanisi konan 50 yasinda bir kadin has- ta sunuldu. Anahtar sozcukler: Alkaptonuri/tani; artrit; artroskopi; diz ek- lemi/patoloji; okronozis/etyoloji. Ochronotic arthropathy is a rare condition found in pa- tients with alkaptonuria which is a hereditary metabolic disease associated with deposition of homogentisic acid derivatives in the articular cartilage, menisci, ligaments, and connective tissues due to homogentisic acid oxidase deficiency. These...