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-b...

Melasma is a cosmetic disorder with profound psychological impact. Multiple therapies are available for melasma but no therapy the gold standard. The most of patients suffer from relapses and recurrences which force patient to opt over-the-counter medications containing topical steroids or indigenous medications. Use these has led emergence complicated cases refractory treatment. Along hyperpig...

BACKGROUND Ochronosis is connective tissue manifestation of Alkaptonuria. Joint involvement specially hip and knee destruction is seen. The cartilage is pigmented and destroyed. It is interested for both pathologists and orthopedic surgeons. CASE PRESENTATION A 54 years old woman with hip fracture after simple falling is candidate for surgery, but, after skin and subcutaneous incision over de...

palmoplantar pigmentation. Postgrad Med J 2001;77:268 & 277. 3. Cherian S. Palmoplantar pigmentation: A clue to Alkaptonuric ochronosis. J Am Acad Dermatol 1994:30:284-5. 4. Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA. Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. Arthritis Rheum 2004;50:3698-701. 5. Bruce S, Tschen JA, Chow...

OBJECTIVES Alkaptonuria (AKU) is a rare genetic disease associated with deficient homogentisate 1,2-dioxygenase activity in the liver. This leads to the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products in connective tissues, which in turn become characterized by the presence of melanin-like pigments (ochronosis). Since at present, further studies are necessary to su...

The post-mortem examination of an unsuspected case of alkaptonuria revealed extensive ochronosis. Histological examination of undecalcified sections of tracheal, costal, femoral and patellar cartilage revealed, in addition to ochronotic pigment, extensive calcium pyrophosphate dihydrate (CPPD) deposition. Similar deposits were present in intervertebral discs and were related to ossification of ...

Degenerative joint disease (DJD) is characterized by pain on use. X-rays show cartilage narrowing and osteophytes. Synovial effusions are non-inflammatory, i.e. clear wiht good viscosity and less than 2000 WBC per mm. 3 Cartilage fragments may be seen in the joint fluid. Important systemic diseases that can cause degenerative joint disease include ochronosis, hemochromatosis, hyperparathyroidis...

In alkaptonuria, deficiency of homogentisate 1,2-dioxygenase leads to the accumulation of homogentisic acid (HGA) and its metabolites in the body, resulting in ochronosis. Reports of patients with alkaptonuria who have decreased kidney function are rare, but this seems to play an important role in the natural history of the disease. We describe a 68-year-old female with chronic kidney disease (...