Kaur J, Virk JS. BMJ Case Rep 2017. doi:10.1136/bcr-2017-222512 Description Anterior cervical osteophytes are commonly associated with degenerative spine in elderly people. The complications that arise due to the mechanical compression of cervical osteophytes are dysphagia, dysphonia and dyspnoea. The usual causes are osteoarthritis, ankylosing spondylitis and diffuse idiopathic spinal hyperost...

  Even though intervertebral disc degeneration can be found in the natural course of alkaptonuria, detection of the disease by black disc color change in a patient without any other presentation of alkaptonuria is an exceptionally rare condition. We have reported a very rare case of alkaptonuria presented with low back pain and steppage gait in a 51-year-old male with a complaint of chronic low...

It is usually present at birth in the two thirds of patients who have ocular involvement.It is more common in females with 5% being bilateral.4 It was first described by Ota in 1939. It can be unilateral or bilateral. Exact etiology and pathology of NOO is not known. Unconfirmed hypothesis is that it represents melanocytes that have not migrated completely from the neural crest to the epidermis...

There are three varieties of cartilage-hyaline, elastic, and fibrocartilage. Hyaline cartilage is the precursor of bone. In the adult it is mainly found at bone ends, forming the load-bearing surface of synovial joints. Extra-articular fibrocartilages such as those of the trachea and ribs often calcify with advancing age. Articular cartilage, however, usually remains free from mineral deposits....

It is being gradually accepted that osteoarthrosis should be regarded in functional terms and, for investigative purposes, as 'joint failure'. Various anatomical, metabolic, and tissue factors can all produce the same end result in the final common pathway of cartilage degeneration, pain, and loss of joint function. Thus osteoarthrosis is a heterogeneous disease that is age-related but is not m...

The occurrence of osteo-arthrosis in multiple joints was noted by Adams (1857). Cecil and Archer (1926) observed that the condition was more often polyarticular than monarticular in patients attending their rheumatism clinic, occurred mainly in middle-aged females, and was usually associated with Heberden's nodes; they labelled the condition menopausal arthritis. Stecher (1941, 1955) investigat...

Alkaptonuria (AKU, MIM 203500), the first human disease to be recognised as a recessive trait and Archibald Garrod’s prototype “inborn error of metabolism”, 2 is a rare disorder of the phenylalanine and tyrosine catabolic pathway caused by the deficiency of homogentisate dioxygenase (HGO, EC 1.13.11.5) activity. AKU patients are homozygous, or compound heterozygous, for loss of function mutatio...

Alkaptonuria (AKU for short) was the first genetic disease ever identified as such, by Dr Archibald Garrod in 1901 in London [1]. It is a rare disease affecting approximately one in 250,000 people, apart from countries such as Slovakia, Jordan and parts of South India where the number is up to 10 times higher [2]. Alkaptonuria is a monogenic disease leading to an enzyme deficiency, causing the ...