Results 141 to 150 of about 2,076 (188)
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Cardiovascular Pathology, 2020
In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of arteries or both.
William Roberts
exaly +3 more sources
In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of arteries or both.
William Roberts
exaly +3 more sources
Clinical and Experimental Dermatology, 2009 Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase. The disease results in the accumulation and deposition of homogentisic acid in the cartilage, eyelids, forehead, cheeks, axillae, genital region, buccal mucosa, larynx, tympanic ...
Turgay, E. +5 more
openaire +3 more sources
A case of ochronosis: MRI of the lumbar spine
Neuroradiology, 2000 We present the MRI features of the lumbar spine in a patient with ...
Rajshekhar, V. +2 more
exaly +2 more sources
Ocular ochronosis: A case report and clinical findings
Acta Ophthalmologica, 2002 Purpose: To report a rare case of bilateral asymmetrical melanin-like pigments found in the cornea, conjunctiva and sclera. Methods: Systemic investigation with clinical and laboratory analysis.
Çevik R
exaly +2 more sources
European Heart Journal, 1995
We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.
R, Cortina +4 more
openaire +2 more sources
We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.
R, Cortina +4 more
openaire +2 more sources
American Journal of Clinical Pathology, 1979
A patient who had masses in the breasts clinically suggestive of neoplasia had fibrous mastopathy and striking deposition of ochronotic pigment within the soft tissue of the breast. The gross appearance and light microscopic features are illustrated. The histochemical features of ochronotic pigment and the difficulty in differentiating it from melanin ...
L G, Lefer, R P, Rosier
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A patient who had masses in the breasts clinically suggestive of neoplasia had fibrous mastopathy and striking deposition of ochronotic pigment within the soft tissue of the breast. The gross appearance and light microscopic features are illustrated. The histochemical features of ochronotic pigment and the difficulty in differentiating it from melanin ...
L G, Lefer, R P, Rosier
openaire +2 more sources
Orthopedics, 2014
Alkaptonuria, with its sequel, ochronosis, is a rare disease, with an incidence of 1:125,000 to 1:1 million worldwide. Reported cases of ochronotic arthropathy and other orthopedic manifestations are mostly limited to a single family tree, and few cases have been reported.
Mukand, Lal +2 more
openaire +2 more sources
Alkaptonuria, with its sequel, ochronosis, is a rare disease, with an incidence of 1:125,000 to 1:1 million worldwide. Reported cases of ochronotic arthropathy and other orthopedic manifestations are mostly limited to a single family tree, and few cases have been reported.
Mukand, Lal +2 more
openaire +2 more sources
Urology, 2017
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-
Onkar, Singh +2 more
openaire +2 more sources
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-
Onkar, Singh +2 more
openaire +2 more sources