Top

Published in:

01-12-2009 | SHORT REPORT

Black hip, fracture neck of femur and scoliosis: A case of ochronosis

Authors: B. Zacharia, J. Chundarathil, V. Ramakrishnan, R. M. Krishnankutty, R. Veluthedath, K. Puthezhath, I. Varughese

Published in: Journal of Inherited Metabolic Disease | Special Issue 1/2009

Summary

Background: Ochronosis is a very rare disorder with an incidence of 2 to 5 per million live births. It is a genetic disorder with autosomal recessive inheritance. It is characterized by dark brown pigmentation of cartilage, capsules of joints and other soft tissues. Ochronosis usually presents as ochronotic arthropathy and spondylosis. Purpose: This article describes a very rare presentation of scoliosis and fracture of the neck of the femur in a patient with ochronosis. Methods: A 65-year-old woman with left-sided scoliosis presented to us following a fall with fracture of the neck of the femur on the left side. Radiological examination and biochemical study of urine were consistent with ochronosis. Procedure and results: We have treated the patient by excision arthroplasty. Conclusion: We report a case of scoliosis, fracture of the neck of the femur and ochronosis occurring together in a patient.

Adonis-Koffy L, Gonzalès E, Nathanson S, Spodek C, Bensman A (2000) [Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]. Arch Pediatr. 7(8): 844–846. doi:10.1016/S0929-693X(00)80194-3 PubMedCrossRef

Aliberti G, Pulignano I, Schiappoli A, Minisola S, Romagnoli E, Proietta M (2003) Bone metabolism in ochronotic patients. J Intern Med. 254(3): 296–300. doi:10.1046/j.1365-2796.2003.01145.x PubMedCrossRef

Aliberti G, Pulignano I, Pisani D, Rocchietti March M, Del Porto F, Proietta M (2007) Bisphosphonate treatment in ochronotic osteoporotic patients. Clin Rheumatol. 26(5): 729–735. doi:10.1007/s10067-006-0390-3 PubMedCrossRef

Bal S, Turan Y, Koçyiğit H, et al (2008) Ochronosis with cardiovascular involvement: a case report. Rheumatol Int. 28(5):479–482PubMedCrossRef

Bongiorno MR, Arico M (2005) Exogenous ochronosis and striae atrophicae following the use of bleaching creams. Int J Dermatol. 44(2):112–115. doi:10.1111/j.1365-4632.2005.02346.x PubMedCrossRef

Brogren N (1952) Case of exogenetic ochronosis from carbolic acid compresses. Acta Derm Venereol. 32(3):258–260PubMed

Bruce S, Tschen JA, Chow D (1986) Exogenous ochronosis resulting from quinine injections. J Am Acad Dermatol. 15(2 Pt 2): 357–361. doi:10.1016/S0190-9622(86)70178-3 PubMedCrossRef

Carlson DM, Helgeson MK, Hiett A (1991) Ocular ochronosis from alkaptonuria. J Am Optom Assoc. 62(11): 854–856PubMed

Cherian S (1994) Palmoplantar pigmentation: a clue to alkaptonuric ochronosis. J Am Acad Dermatol. 30(2 Pt 1): 264–265. doi:10.1016/S0190-9622(08)81922-6 PubMedCrossRef

Chevez Barrios P, Font RL (2004) Pigmented conjunctival lesions as initial manifestation of ochronosis. Arch Ophthalmol. 122(7): 1060–1063. doi:10.1001/archopht.122.7.1060 PubMedCrossRef

Cobos Soler FJ, Molero Cabrilla R (2002) [Ochronosis: a case report with multisystemic affectation, including pericardium]. An Med Interna. 19(11): 583–585PubMed

Collins E, Hand R (2005) Alkaptonuric ochronosis: a case report. AANA J. 73(1): 41–46PubMed

Dereymaeker L, Van Parijs G, Bayart M, Daenen W, Lauwerijns J, De Geest H (1990) Ochronosis and alkaptonuria: report of a new case with calcified aortic valve stenosis. Acta Cardiol. 45(1): 87–92PubMed

Eberle P, Mohr W, Claes L (1984) [Biomechanical studies on the pathogenesis of ochronotic arthropathy]. Z Rheumatol. 43(5): 249–252PubMed

Gaines JJ, Jr (1989) The pathology of alkaptonuric ochronosis. Hum Pathol. 20(1): 40–46. doi:10.1016/0046-8177(89)90200-1 PubMedCrossRef

Gaucher A, Netter P, Fuare G, et al (1977) [HLA-B27 antigen and alkaptonuria]. Rev Rhum Mal Osteoartic. 44(4): 273–277PubMed

Hamdi N, Cooke TD, Hassan B (1999) Ochronotic arthropathy: case report and review of the literature. Int Orthop. 23(2): 122–125. doi:10.1007/s002640050325 PubMedCrossRef

Janocha S, Wolz W, Srsen S, et al (1994) The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics. 19(1): 5–8. doi:10.1006/geno.1994.1003 PubMedCrossRef

Krizek V (1971) Urolithiasis and prostatolithiasis in alcaptonuria with ochronosis. Int Urol Nephrol. 3(3): 245–250. doi:10.1007/BF02081762 PubMedCrossRef

Lagier R, Steiger U (1980) Hip arthropathy in ochronosis: anatomical and radiological study. Skeletal Radiol. 5(2): 91–98PubMedCrossRef

Manoj Kumar RV, Rajasekaran S (2003) Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br. 85(6): 883–886PubMed

McCollum DE, Odom GL (1965) Alkaptonuria, ochronosis, and low-back pain: a case report. J Bone Joint Surg Am. 47: 1389–1392PubMed

Orzincolo C, Castaldi G, Scutellari PN, Cicognani P, Bariani L, Feggi L, et al (1988) [Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs]. Radiol Med (Torino). 75(5): 476–481

Rodwell VW (1990) Catabolism of the carbon skeletons of amino acids. In: Harper's Biochemistry, 22nd edn. Robert PAM, Murray K,.Granner DK, Rodwell VW, eds. Connecticut: Appleton & Lange.

Sakkas L, Thouas B, Smyrnis P, Vlahos E, et al (1987) Low back pain and ochronosis. Int Orthop. 11(1): 19–21 doi:10.1007/BF00266053 PubMedCrossRef

Siegenthaler D (1965) [Ochronosis. (Observations in a family)]. Z Klin Med. 158(7): 582–600PubMed

Sitaj S, Zitnan D (1978) [Spondylopathy in ochronosis, chondrocalcinosis and fluorosis]. Verh Dtsch Ges Rheumatol. 5: 408–415PubMed

Soodan VM (1976) Ochronotic arthritis. J Indian Med Assoc. 66(6): 132–133PubMed

Szanto D (1968) [Simultaneous occurrence of gout and ochronosis]. Fortschr Geb Rontgenstr Nuklearmed. 109(4): 532–532PubMedCrossRef

Venkataseshan VS, Chandra B, Graziano V, et al (1992) Alkaptonuria and renal failure: a case report and review of the literature. Mod Pathol. 5(4): 464–471PubMed

Vijaikumar M, Thappa DM, Srikanth S, Sethuraman G, Nadarajan S (2000) Alkaptonuric ochronosis presenting as palmoplantar pigmentation. Clin Exp Dermatol. 25(4): 305–307. doi:10.1046/j.1365-2230.2000.00649.x PubMedCrossRef

Title: Black hip, fracture neck of femur and scoliosis: A case of ochronosis
Authors: B. Zacharia
J. Chundarathil
V. Ramakrishnan
R. M. Krishnankutty
R. Veluthedath
K. Puthezhath
I. Varughese
Publication date: 01-12-2009
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue Special Issue 1/2009
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-1172-2

Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin

Prof. Florian Limbourg

Prof. Anoop Chauhan

Developed by: Springer Medicine

Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

2024 ASCO Annual Meeting

Springer Medicine

Summary

Please log in to get access to this content

Other articles of this Special Issue 1/2009

Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status

Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy

A new case of ALG8 deficiency (CDG Ih)

Early-onset hyperargininaemia: A severe disorder?

Cognitive and social profiles in two patients with cobalamin C disease

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

At a glance: The STEP trials