Indian Journal of Pathology and Microbiology

LETTER TO EDITOR
Year
: 2015  |  Volume : 58  |  Issue : 2  |  Page : 255--256

Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case


Poonam Kishorekumar Panjwani1, Usha Kini1, Surya Kant Choubey2, Adhyam Mohan2,  
1 Department of Pathology, St. John's Medical College and Hospital, St. John's National Academy of Health Sciences, Bengaluru, Karnataka, India
2 Department of Urology, St. John's Medical College and Hospital, St. John's National Academy of Health Sciences, Bengaluru, Karnataka, India

Correspondence Address:
Dr. Usha Kini
Department of Pathology, St. John«SQ»s Medical College, Bengaluru - 560 034, Karnataka
India




How to cite this article:
Panjwani PK, Kini U, Choubey SK, Mohan A. Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case.Indian J Pathol Microbiol 2015;58:255-256


How to cite this URL:
Panjwani PK, Kini U, Choubey SK, Mohan A. Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case. Indian J Pathol Microbiol [serial online] 2015 [cited 2021 Jan 25 ];58:255-256
Available from: https://www.ijpmonline.org/text.asp?2015/58/2/255/155347


Full Text

Editor,

Alkaptonuria, an autosomal recessive metabolic disorder due to deficiency of the enzyme homogentisate dioxygenase [1] results in deposit of oxidized deposits of homogentisic acid with special affinity for cartilage, joints and soft tissue [2],[3] giving them an ochre or yellow hue grossly as well as histologically. [4] Virchow, who histologically described the connective tissue in alkaptonuria, coined the word ochronosis. [5]

We present here the first case in world literature to illustrate the coexistence of ochronosis and renal cell carcinoma in a 53-year-old female who presented with the complaints of recurrent hematuria, dysuria and hypertension since 1-year but totally asymptomatic of ochronosis. Radiology of the abdominal mass palpable in the right iliac fossa showed a tumor mass measuring 16 cm × 10 cm in the lower pole of the right kidney. A radical nephrectomy was performed, and the right 9 th and 10 th rib were resected as they were coal black in color [Figure 1]a and b. The renal mass showed features of a unifocal clear cell carcinoma [Figure 2]a, Fuhrman nuclear grade II, stage T2N0M0. The adjacent normal renal parenchyma showed pigment deposits in the tubules [Figure 2]a inset. The bone fragments showed diffuse brown discoloration of the bone matrix, osteocytes with a few deposits in soft tissue [Figure 2]b.{Figure 1}{Figure 2}

For further investigations, freshly voided urine sample of the patient was collected and when kept for 1 hour, showed a deep darkening more in its upper half in comparison to its lower half. The sample strongly turned black with silver nitrate test, indicating a strong positivity for homogentisic acid while the benzidene test was negative for occult blood. Though the tests for sugars in the urine were negative, Benedict's test showed a dark blue, black precipitate. The soft tissue deposits stained black with crystal violet. The diagnosis of alkaptonuria with ochronosis was confirmed by chromatography. On reassessment, the bluish-black scleral pigmentation in the right eye of the patient, earlier thought to be a nevus, was considered as one of the manifestations of ochronosis. The patient was advised regular follow-up. The postoperative period was uneventful.

This case highlights that the patient may be asymptomatic at the time of presentation and diagnosis, though has manifestations of ochronosis,. Careful intraoperative observation of the black ribs, followed by diligent workup of pigment deposits clinched the diagnosis of ochronosis. No definite protocols are suggested for treatment of alkaptonuria/ochronosis, but ascorbic acid, protein-restriction of tyrosine, phenylalanine or total-protein restriction and use of the drug nitisinone, which is an inhibitor of homogentisate production have been recommended. [2] The patient may likely to benefit from regular follow-up to prevent complications. Screening of newborns is recommended if a family history is suggestive.

References

1Garrod AE. The incidence of alkaptonuria: A study in chemical individuality. Lancet 1902;2:1616-20.
2Weatherall DJ. The centenary of Garrod's Croonian lectures. Clin Med 2008;8:309-11.
3Zatková A, de Bernabé DB, Poláková H, Zvarík M, Feráková E, Bosák V, et al. High frequency of alkaptonuria in Slovakia: Evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet 2000; 67:1333-9.
4Virchow R. An instance of a general Ochronosis of cartilage and cartilage-like parts. Arch Pathol Anat 1866;37:212-9.
5Maathuis PG, Driessen AP. Painted black. Ann Rheum Dis 2002; 61:100-1.