scholarly journals Case Report: Ochronotic Arthropathy

2021 ◽  
Author(s):  
Ülkü Dönmez ◽  
Ece Çınar ◽  
Cihat Öztürk ◽  
Simin Hepgüler
Keyword(s):  
Soft Tissues ◽  
Clinical Findings ◽  
Homogentisic Acid ◽  
Inflammatory Back Pain ◽  
Joint Involvement ◽  
Acid Oxidase ◽  
Ochronotic Arthropathy ◽  
Vitamin C Supplementation ◽  
Oxidase Enzyme ◽  
Chronic Arthropathy

Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory back pain. Although axial involvement radiologically resembles ankylosing spondylitis (AS), it is differentiated by the absence of typical syndesmophytes, facet involvement, sacroiliac erosion and fusion.Although there is no effective treatment for ochronosis disease; our patient was given a protein-poor diet, vitamin C supplementation (100 mg/kg/day) and analgesic treatment for symptoms recommended in the literature; and a reduction in joint complaints was observed. In this case, the aim is to diagnose the rare ochronotic arthropathy followed with the diagnosis of AS and to show that both axial and peripheral joint involvement can be together in this disease.

scholarly journals Polyarticular Ochronotic Arthritis: A Case Report

2019 ◽  
Vol 2 (1-3) ◽  
pp. 1-13 ◽  
Author(s):  
Marco Di Marco ◽  
Silvia Elena De Martinis ◽  
Marcello Truzzi ◽  
Roberto Viganò
Keyword(s):  
Functional Limitation ◽  
Homogentisic Acid ◽  
Knee Joints ◽  
Acid Oxidase ◽  
Inherited Disease ◽  
Ochronotic Arthropathy ◽  
Clinical Presentations ◽  
Oxidase Enzyme ◽  
Total Knee

Alkaptonuria is an inherited disease due to the lack of homogentisic acid oxidase enzyme. The most common clinical presentations are a brownish-grey color of the sclera, dark skin, kidney stones, aortic calcifications, and ochronotic arthropathy. Ochronotic arthropathy is characterized by the accumulation of homogentisic acid in the connective tissue determining severe joint degeneration. We present the case of a woman affected by ochronosis since the age of 30 years. The patient showed a severe degeneration of the hip and knee joints bilaterally, associated with an important and painful functional limitation. Conservative care did not achieve good results. We performed bilateral cementless total knee arthroplasty and bilateral cementless total hip arthroplasty. We report satisfactory outcomes in terms of range of motion and pain control in a 6-year follow-up. Our approach to this pathology is the same we adopt with rheumatoid arthritis after our decennial experience. We suggest that prosthetic replacement represents a definitive way to treat ochronotic arthropathy.

scholarly journals Skin pigmentation, a window to diagnose Alkaptonuria: a very rare entity

2017 ◽  
Vol 5 (6) ◽  
pp. 2801
Author(s):  
Sandhya Chauhan ◽  
Ashok Garg ◽  
G. R. Tegta ◽  
Kuldeep Thakur
Keyword(s):  
Autosomal Recessive ◽  
Skin Pigmentation ◽  
Clinical Manifestations ◽  
Homogentisic Acid ◽  
Cardiac Complications ◽  
Acid Oxidase ◽  
Urine Examination ◽  
Tyrosine Metabolism ◽  
Oxidase Enzyme ◽  
Rare Inborn Error

Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inherited by autosomal recessive mode. There is complete absence of homogentisic acid oxidase enzyme which results in accumulation of homogentisic acid in cartilaginous connective tissue thus produces ochronotic clinical manifestations. Here we reported a 36 year old woman with bluish pigmentation of pinnae, index fingers (lateral aspect), nails, teeth and sclera. Detailed clinical and investigative workup was done to diagnose patient. Skin biopsy showed changes of ochronosis and urine examination revealed detectable level of homogentisic acid. Classical ocular findings, ochronosis on clinical and HPE and positive urinary tests for homogentisic acid confirmed the diagnosis of alkaptonuria. The highlight of our case is that an asymptomatic patient was detected early by ochronosis prior to development of musculoskeletal or cardiac complications.

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.

scholarly journals Imaging of Joint and Soft Tissue Involvement in Systemic Lupus Erythematosus

2021 ◽  
Vol 23 (9) ◽  
Author(s):  
Andrea Di Matteo ◽  
Gianluca Smerilli ◽  
Edoardo Cipolletta ◽  
Fausto Salaffi ◽  
Rossella De Angelis ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Soft Tissue ◽  
Lupus Erythematosus ◽  
Structural Damage ◽  
Structural Changes ◽  
Soft Tissues ◽  
Imaging Techniques ◽  
Joint Involvement ◽  
Systemic Lupus ◽  
Muscle Involvement

Abstract Purpose of Review To highlight the potential uses and applications of imaging in the assessment of the most common and relevant musculoskeletal (MSK) manifestations in systemic lupus erythematosus (SLE). Recent Findings Ultrasound (US) and magnetic resonance imaging (MRI) are accurate and sensitive in the assessment of inflammation and structural damage at the joint and soft tissue structures in patients with SLE. The US is particularly helpful for the detection of joint and/or tendon inflammation in patients with arthralgia but without clinical synovitis, and for the early identification of bone erosions. MRI plays a key role in the early diagnosis of osteonecrosis and in the assessment of muscle involvement (i.e., myositis and myopathy). Conventional radiography (CR) remains the traditional gold standard for the evaluation of structural damage in patients with joint involvement, and for the study of bone pathology. The diagnostic value of CR is affected by the poor sensitivity in demonstrating early structural changes at joint and soft tissue level. Computed tomography allows a detailed evaluation of bone damage. However, the inability to distinguish different soft tissues and the need for ionizing radiation limit its use to selected clinical circumstances. Nuclear imaging techniques are valuable resources in patients with suspected bone infection (i.e., osteomyelitis), especially when MRI is contraindicated. Finally, dual energy X-ray absorptiometry represents the imaging mainstay for the assessment and monitoring of bone status in patients with or at-risk of osteoporosis. Summary Imaging provides relevant and valuable information in the assessment of MSK involvement in SLE.

Magnetic Resonance Imaging in the Diagnosis of Disruption of the Posterior Tibial Tendon

Foot & Ankle ◽  
1987 ◽  
Vol 8 (3) ◽  
pp. 144-147 ◽  
Author(s):  
Ian J. Alexander ◽  
Kenneth A. Johnson ◽  
Thomas H. Berquist
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Soft Tissues ◽  
Diagnostic Technique ◽  
Clinical Findings ◽  
The Body ◽  
Posterior Tibial Tendon ◽  
Resonance Imaging ◽  
Posterior Tibial ◽  
Magnetic Resonance Imaging Mri

Magnetic resonance imaging (MRI), a useful technique of studying soft tissues of the body, can be very effective in assessing the integrity of tendons. Usually a patient with a complete tear of the posterior tibial tendon has characteristic physical findings. In the patient presented, MRI demonstrated a complete disruption of the posterior tibial tendon, despite the absence of the commonly associated clinical findings. In view of the difficulties encountered with attempted tenography of the completely torn posterior tibial tendon, MRI provides a sensitive alternative diagnostic technique.

scholarly journals HOMOGENTISIC ACID OXIDASE

1955 ◽  
Vol 212 (2) ◽  
pp. 565-582
Author(s):  
Dana I. Crandall
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase

scholarly journals Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

2009 ◽  
Vol 30 (12) ◽  
pp. 1611-1619 ◽  
Author(s):  
Thierry Vilboux ◽  
Michael Kayser ◽  
Wendy Introne ◽  
Pim Suwannarat ◽  
Isa Bernardini ◽  
...  
Keyword(s):  
Homogentisic Acid ◽  
Mutation Spectrum ◽  
Acid Oxidase

Encephalotrigeminal Angiomatosis: A Review with Emphasis on Head and Neck Manifestations

Neurographics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 166-174
Author(s):  
B.R. Larsen ◽  
M.S. Rosztoczy ◽  
D.C. Van Tassel ◽  
C.R. Larson ◽  
S.A. Avedikian ◽  
...  
Keyword(s):  
Head And Neck ◽  
Soft Tissues ◽  
Clinical Findings ◽  
Imaging Features ◽  
Facial Soft Tissue ◽  
Vascular Abnormalities ◽  
Weber Syndrome ◽  
The Face ◽  
Sturge Weber Syndrome ◽  
Tissue Abnormalities

Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome or Sturge-Weber-Dimitri disease, is a sporadic congenital neurocutaneous syndrome characterized by angiomas of the face, eyes, and meninges. The typical clinical findings include seizures, a port-wine facial nevus, hemiparesis, and developmental delay. The classic intracranial imaging features of Sturge-Weber syndrome include cerebral hemispheric atrophy, hypervascularity and/or calcification of the cortex, and ipsilateral choroid plexus enlargement. Extracranial findings primarily include the vascular abnormalities of the ocular and facial soft tissues as well as hypertrophy of the calvarial and maxillofacial osseous structures. Additionally, we report involvement of the extraocular muscles, salivary glands, and lacrimal glands, findings that have not been well described in the literature. While a developmental venous pathology underlying Sturge-Weber syndrome has been proposed resulting in many of the findings, the mechanism behind the facial soft-tissue abnormalities and the clinical sequelae associated with these glandular abnormalities is still uncertain.Learning Objective: To recognize typical clinical and various imaging manifestations of Sturge-Weber syndrome, including head and neck and intracranial imaging findings

Alkaptonuria (Ochronosis)

2019 ◽  
pp. 178-180
Author(s):  
Josephina A. Vossen
Keyword(s):  
Metabolic Disease ◽  
Intervertebral Disc ◽  
Standard Method ◽  
Homogentisic Acid ◽  
Connective Tissues ◽  
Ochronotic Arthropathy ◽  
Intervertebral Disc Calcification ◽  
Cardiovascular Abnormalities ◽  
Acid Accumulation

Chapter 39 discusses alkaptonuria (ochronosis), a rare hereditary metabolic disease that leads to the deposition of homogentisic acid. Homogentisic acid accumulation causes damage to connective tissues; leads to formation of renal, urethral, and prostatic calculi; causes cardiovascular abnormalities; and causes arthropathy. Ochronotic arthropathy is the articular manifestation of alkaptonuria with the most common clinical sites of involvement being the spine, knees, and hips. Diagnosis of the disease is made by demonstration of homogentisic acid in the urine. Radiography is the standard method for detecting changes associated with alkaptonuria. CT can aid in the detection of intervertebral disc calcification.

scholarly journals The Management of Zygomatic Complex Fractures: A Review

2019 ◽  
pp. 1-6
Author(s):  
Abbas Karimi ◽  
Ehsan Shoohanizad
Keyword(s):  
Soft Tissues ◽  
Bone Fractures ◽  
Mouth Opening ◽  
Facial Asymmetry ◽  
Clinical Findings ◽  
Ocular Tissue ◽  
Facial Skeleton ◽  
Young Males ◽  
Zygomatic Bone ◽  
Complex Fractures

The face symmetry has prominent role in the human body after injuries and accident. The zygomatic region is important factor in the injuries face. Due to its location, its fracture is the 2nd frequent fractured bone of mid-facial. Zygomatic bone fractures are more abundant in young males and its incidence and etiology is different based on location. Post-traumatic facial deformity is the most incorrect reconstruction of the facial skeleton. Inadequate healing of the supported soft tissues lead to malposition of landmarks, shrinkage and thickening. The zygomatic bone fracture and coronoid process impingement lead to restricted mouth opening. Interruption in zygomatic position has psychological, aesthetic and functional effects which impairs the function of mandible and ocular tissue. Therefore, diagnose and properly management of the zygomatic bone injury is important. Healing displaced fragments of zygomatic bone after inadequate fixation and reduction of fracture consequences facial asymmetry. There is a lack of information about evaluation of benefits and costs of different zmc fracture methods. So, this literature review was done to characterize the etiology, incidence, clinical findings and results of different treatment trends of zygomaticomaxillary complex fractures. Surgeons have been utilized numerous approaches, but there are different ideas for the best one.

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