It’s the ideal resource for the orthopaedic surgeon and radiologist as well as the trainee and practicing pathologist. [books.google.com]

Copyright College of American Pathologists Jul 2001 Provided by ProQuest Information and Learning Company. All rights Reserved Return to Alcaptonuria [the-medical-dictionary.com]

In one instance an ochronotic eye was enucleated for suspecting melanoma, and diagnosis of ochronosis was set by the pathologist [ 52 ]. [bmcophthalmol.biomedcentral.com]

No significant information arose from the history as the patient did not suffer from any chronic disease, did not take medication on a regular basis, did not smoke and had no family history of arthritis. [medcraveonline.com]

Case Report In April 2003, a 67-year-old woman who had severe aortic valvular stenosis and moderate mitral valve insufficiency presented at our clinic with dyspnea. [ncbi.nlm.nih.gov]

The cartilaginous tissue of the respiratory system may also be affected by ochronosis with heavy deposition of the pigment in the laryngeal, tracheal and bronchial cartilages resulting in hoarseness, dyspnea and difficult airway access. 4 Hoarseness may [apicareonline.com]

[…] attack of the urinary system with the presence of swelling and calculus of the prostate, nephrolithiasis, renal failure, usually in late stages [24,25], as well as attack of the respiratory system with the appearance of throat dryness, dysphagia and dyspnea [medcraveonline.com]

In effect, this process mimics the cutaneous manifestation of endogenous ochronosis. Pseudo-ochronosis appears to be due to deposits of traumatically implanted silver onto collagen bundles. [dermaamin.com]

Track disease progression and treat patients more effectively with the information on genetic findings, imaging outcomes, cell and biologic therapies, rheumatoid arthritis, and SLE. [books.google.com]

These include massive urinary excretion of HGA, arthritis and joint destruction, pigmentation of cartilage and connective tissue, and cardiac valve deterioration. [ncbi.nlm.nih.gov]

Patient had been suffering form low backache, arthritis of the knees, hip and small joints of hands and feet for the past 10 years. [ijdvl.com]

Semin arthritis rheum 6:207, 1977. Dn19296-1. [icd10data.com]

Sclerae Pigment causes the collagen fibres to loose normal resilience Becomes brittle & fibrillated Degenerative changes in joints follow May have pyrophosphate crystals in joint Loose body formation not uncommon Clinical features The first complaint is back [orthofracs.com]

Musculoskeletal symptoms began in most of our patients around the age of 30 years with back pain and stiffness: involvement of the large peripheral joints usually occurred several years after spinal changes. [ncbi.nlm.nih.gov]

He also had complaints of back pain for 6 months, stiffness of knee joints for 2 months. He was aware of brown to black discoloration of urine for the past 2 years. No similar lesion was known to be present in his family. [pigmentinternational.com]

Back pain Back pain is often the first sign of systemic involvement. It is often described as a dull, aching pain with stiffness. It can occur as early as ages 20-30. [rheumatologyadvisor.com]

Firstly patients suffer low back pain with stiffness, followed by knee, shoulder and hip pain over the next 10 years. Cartilage becomes brittle and can break apart easily. [dermnetnz.org]

Firstly patients suffer low back pain with stiffness, followed by knee, shoulder and hip pain over the next 10 years. Cartilage becomes brittle and can break apart easily. [dermnetnz.org]

Symptoms and clinical appearance Many patients remain initially asymptomatic for years or decades or show non-specific symptoms in the affected organs, which also occur in other diseases (for example, low-back-pain). [omicsonline.org]

Patient also experienced non-radiating low back pain for three years, described as mild scoliosis with calcification on the lumbosacral joint on radiograph. Aside from these, there are also tangible thickening of both Achilles tendons. [oatext.com]

Low back pain and stiffness are common symptoms and are sometimes seen before the age of 30. Discs between the vertebrae flatten and calcify. [rarediseases.org]

Among the 47 patients who were more than 30 years old, low back pain began before the age of 30 in 23 (49 percent); among the 35 patients who were more than 40 years old, low back pain began before the age of 40 in 33 (94 percent). [nejm.org]

In the thoracolumbar spine, one may see osteopenia, loss of lumbar lordosis, multilevel calcification of the annulus fibrosus, vacuum phenomenon, and progressive narrowing of intervertebral spaces. [roentgenrayreader.blogspot.com]

Radiological examination of spine showed loss of lumbar lordosis, reduction in all disc spaces, and fusion of vertebral bodies with dense calcification of all intervertebral discs [Figure 4] a and b. [mjdrdypu.org]

[…] of lumbar lordosis (Figure 3 ). [archivesofrheumatology.org]

Loss of lumbar lordosis, decreased spinal mobility, and loss of overall height can occur. Cervical spine and pubic symphysis joints can also be affected. Sacroiliac and apophyseal joints are not affected. [rheumatologyadvisor.com]

For large joints, involvement of the joint spaces was scored as absent (0); minimal, with osteophytes, subchondral cysts, or both, but no narrowing of joint spaces (1); mild, with minimal joint-space narrowing (2); moderate, with marked joint-space narrowing [nejm.org]

Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining; many patients remain undiagnosed until adulthood. [radiopaedia.org]

Dark urine (after exposure to sunlight). Images: Ochronosis - eye (nejm.org). Ochronosis - hip (nih.gov/CMAJ). Microscopic Features: Deposits of (acellular) brown pigment (H&E sections) - key feature. May be dark magenta. [librepathology.org]

Discussion Alkaptonuria was first described in 1584, in children with dark urine. [scielo.br]

Alkaptonuria should be suspected in individuals with dark urine. [rarediseases.org]

Abstract A patient with calcified aortic valve disease secondary to ochronosis and alkaptonuria is presented. Urgent aortic valve replacement was necessary. The cardiovascular complications of this disease are reviewed. [ncbi.nlm.nih.gov]

Dereymaeker L, Van Parijs G, Bayart M, Daenen W, Lauwerijns J, et al. (1990) Ochronosis and alkaptonuria: report of a new case with calcified aortic valve stenosis. Acta Cardiol 45(1): 87-92. [medcraveonline.com]