A late and difficult diagnosis of ochronosis.
Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. This causes the classic clinical triad: (1) homogentisic aciduria (urine blackens on standing when oxidized or alkalinized); (2) eumelanin-like pigmentation of skin, sclera, cartilages, etc and (3) degenerative ochronic arthropathies usually in the fourth decade of life. Other important but more rare consequences of alkaptonuric ochronosis are cardiovascular and urinary tract involvement. We present a case of ochronosis with multiple visceral involvement: skin (fingers, ear sclera), severe spondylarthropaty with extensive calcifications of intervertebral discs and reduced mobility, osteoarthritis of both knees, right hip ostonecrosis, cardiovascular involvement (severe stenosis and insufficiency of aortic valve that) and urinary tract involvement (nephrolitiasis)
Internal Medicine and Rheumatology Clinic, St. Mary Clinical Hospital, Bucharest, Romania.
Laura
L
Groseanu
Rodica
R
Marinescu
Dan
D
Laptoiun
Iozefina
I
Botezatu
Florica
F
Staniceanu
Sabina
S
Zurac
Ruxandra
R
lonescu
D000367:Age Factors; D000474:Alkaptonuria; D001024:Aortic Valve Stenosis / Q000209:etiology; D003937:Diagnosis, Differential; D004431:Ear, External / Q000473:pathology; D005385:Fingers / Q000473:pathology; D050560:Homogentisate 1,2-Dioxygenase / Q000172:deficiency*; D006801:Humans; D008297:Male; D008875:Middle Aged; D053040:Nephrolithiasis / Q000209:etiology; D009794:Ochronosis / Q000150:complications / Q000175:diagnosis; D011859:Radiography; D025242:Spondylarthropathies / Q000000981:diagnostic imaging / Q000209:etiology
D050560:Homogentisate 1,2-Dioxygenase
J Intern Med. 2003 Sep;254(3):296-300
12930240
Clin Med Res. 2004 Nov;2(4):209-15
15931360
Clin Exp Dermatol. 2000 Jun;25(4):305-7
10971492
J Drugs Dermatol. 2006 Jan;5(1):80-1
16468299
Virchows Arch. 2000 Jan;436(1):74-81
10664165
Rheumatol Int. 2002 Mar;21(5):205-9
11958438
J Rheumatol. 1991 Oct;18(10):1639-40
1765997
Int J Dermatol. 2005 Feb;44(2):112-5
15689207
J Rheumatol. 1990 Dec;17(12):1707-9
2084253
J Rheumatol. 1991 Dec;18(12):1948-9
1795348
Nat Genet. 1996 Sep;14(1):19-24
8782815
Clin Rheumatol. 1995 May;14(3):355-7
7641516
Clin Rheumatol. 1994 Mar;13(1):135-8
8187438
Clin Exp Rheumatol. 1988 Jul-Sep;6(3):289-92
3180550
Science. 1977 Aug 5;197(4303):566-8
327549
Br J Ophthalmol. 1999 Jun;83(6):680-3
10340975
Ann Clin Biochem. 2003 Jan;40(Pt 1):108-11
12542920
N Engl J Med. 2002 Dec 26;347(26):2111-21
12501223
Hum Mol Genet. 2000 Sep 22;9(15):2341-50
11001939
JAMA. 1978 Jul 14;240(2):136-8
351220
Indian J Med Sci. 2005 May;59(5):211-3
15985730
Z Rheumatol. 1998 Feb;57(1):50-2
9566109
J Bone Joint Surg Br. 1970 Nov;52(4):653-66
5487565
Tex Heart Inst J. 2004;31(4):445-7
15745303
Z Orthop Ihre Grenzgeb. 1999 Jan-Feb;137(1):76-8
10327566
Int Orthop. 1999;23(2):122-5
10422033