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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2009  |  Volume : 20  |  Issue : 4  |  Page : 652-654
Tri-filial presentation of familial tuberous sclerosis with renal tumors


1 Department of General Surgery, Midnapore Medical College and Hospital, Midnapore, West Bengal, India
2 Department of Dermatology, Midnapore Medical College and Hospital, Midnapore, West Bengal, India
3 Department of Pathology, Midnapore Medical College and Hospital, Midnapore, West Bengal, India

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Date of Web Publication8-Jul-2009
 

   Abstract 

Tuberous sclerosis is a rare neuro-cutaneous syndrome with autosomal dominant penetrance. Only some organs are involved, e.g., skin (earthy skin thickenings, ash leaf patches), cerebral cortex (hamartomatous nodules) and kidneys, (angiolipoma, adenocarcinoma). These hamar­tomatous swellings resemble potatoes and hence, referred to as tubers. We herein report on three patients (all familial), father, son and granddaughter, with this rare involvement, from the eastern part of India. The father and son had involvement of only the skin (i.e. nose) and kidneys while the disease penetrated further in the subsequent filial generations with son and granddaughter having skin, brain and bilateral kidney involvement. This kind of tri-filial progression has not till date, been reported from this region, making it an interesting case presentation.

Keywords: Familial tuberous sclerosis, Kidney tumors

How to cite this article:
Ghoshal SR, Chatterjee SD, Ray S, Chakraborty S, Achar A, Pathak T K. Tri-filial presentation of familial tuberous sclerosis with renal tumors. Saudi J Kidney Dis Transpl 2009;20:652-4

How to cite this URL:
Ghoshal SR, Chatterjee SD, Ray S, Chakraborty S, Achar A, Pathak T K. Tri-filial presentation of familial tuberous sclerosis with renal tumors. Saudi J Kidney Dis Transpl [serial online] 2009 [cited 2020 Feb 18];20:652-4. Available from: http://www.sjkdt.org/text.asp?2009/20/4/652/53294

   Introduction Top


Desiree-Magloire Bourneville first reported tuberous sclerosis complex (TSC) as "tuberous sclerosis of the cerebral convolutions" in 1800. The tri-filial representation and the variance in the disease progression over the generations make it a rare and interesting case for presen­tation.


   Case History Top


A 58 year old male patient was admitted to the Midnapore Medical College and Hospital, West Bengal, India with chief complaints of pain and discomfort in the left lower abdomen and fever of one month's duration. There was a previous history of seizures; the patient denied any uri­nary complaints. Examination revealed a thick blackened skin over the nasal area. His son and granddaughter were found to have similar skin changes [Figure 1].

The following investigative modalities were performed on all these patients: skin lesion scra­pings, ultrasound (USG) and computerized tomo­graphic (CT) scan of the abdomen.

The patient was initially referred for dermato­logical consultation. The lesion was diagnosed as the rare genetic tuberous sclerosis. Ultraso­nography of the abdomen showed a space occu­pying lesion (SOL) in the left kidney. It was sus­pected to be a hypernephroma. Spiral dynamic bolus contrast CT scan of abdomen of father fur­ther confirmed the presence of a SOL in the left kidney. Fine needle aspiration cytology (FNAC) was suggestive of adenocarcinoma involving upper pole of the left kidney; the patient subse­quently underwent excision biopsy [Figure 2].

The father (58 years old) had only skin involve­ment with loin pain. The granddaughter (6 years) suffered from seizures while the son (30 years) had both. Abdominal USG of both son and granddaughter suggested angiomyolipomatous swelling of both kidneys. CT scan of brain of both son and granddaughter showed no abnor­malities. None of the three family members had any urinary complaints.

To summarize the findings, all three family members had tuberous sclerosis or tuberous ade­noma on skin scraping; abdominal USG revea­led adenocarcinoma in the mid lower pole of the left kidney in the father, while both son and granddaughter had angiolipoma; CT-guided FNAC performed in the father, showed a num­ber of atypical, hyper-chromatic, slightly pleo­morphic, polygonal spindle shaped cells in clus­ters, suggestive of renal cell carcinoma.

Molecular analysis for gene TSC1 and TSC2 in chromosome 9q34 and 16p3 respectively was not possible due to availability constraints.


   Discussion Top


Tuberous sclerosis is a rare genetic disease that causes benign tumors in various parts of the body like brain, kidney, skin, eye, heart and lungs. Common symptoms include seizures, mental re­tardation, behavioural problems and skin abnor­malities; it is therefore called "tuberous sclerosis complex" (TSC). It is also called EPILOIA (Epi= epilepsy, Loi= low intelligence, A=adenoma sebaceum). However, the classic triad is seen in only a minority of patients (approximately 15 to 20%). This is a common autosomal dominant inherited disease, being associated with at least two separate chromosomes (TSC1, found on chromosome 9q34, and TSC2, on chromosome 16p3).

The prevalence rate is about 1 in 5800. Nearly one million people worldwide are known to suf­fer from tuberous sclerosis. It is an iceberg di­sease with many undiagnosed cases, due to obs­curity of the disease. Tuberous sclerosis is trans­mitted either through genetic inheritance or as a spontaneous genetic mutation. Children have a 50% chance of inheriting TSC if one of the pa­rents is involved. [1]

Hamartomatous proliferation of tissue involving vascular, fibrous, glandular or glial tissue, form a small potato like swelling, the so called tuber. Adenoma sebaceum or angiofibromas are 1-3 mm, yellowish, translucent, and discrete waxy papules noted over nose, cheek and forehead skin. These findings have also been reported in MEN-1 syndrome. They are found in about 85% of cases with hypo-pigmented patch and tuft of white hair.

Renal hamartomas, in the form of angiolipo­mas (25%), cystic disease (18%) and rarely adenocarcinoma may be present. In the familial variety, about 80% of the patients have angio­myolipomas of the kidneys, which are bilateral and may lead to renal failure. Three types of tubers may form in brain; cortical tubers on sur­face of cortex, subependymal nodules on walls of ventricles and giant celled astrocytomas. [2]

Not all features need be present in every pa­tient. Involvement in familial cases is seen in about 80%, mental deficiency is seen in 40-60%, epilepsy or seizures in about 90%, angiomyo­lipomas in 45%, cystic disease in 18% and skin involvement (papular lesions) in another 80% of the patients. [3]

Thus in diagnosing TSC, dermatological ma­nifestations, renal and cerebral hamartomas are considered major features. Liver, lung, retina may also be involved. Modern TSC genetic tes­ting may be helpful to study the disease progre­ssion pattern. [4]

Although supportive treatment is available for a number of symptoms, there is no cure as such for TSC. Antiepileptic drugs for seizures, laser microsurgery for skin condition or removal of kidney tumor, are symptomatic therapies and have no halting role over disease progression. Longevity will depend upon severity or multi­plicity of organ involvement. [5]


   Conclusion Top


TSC is still an obscure disease. Mechanism of genetic mutation of TSC is still not known and the value of routine investigation for genetic counselling in tuberous sclerosis is still debata­ble. [6] Epilepsy and autism are two important features that may occur in children. Ketogenic diet probably has a role to play as effective therapeutic modality in intractable epilepsy. [7] Bilateral massive bleeding in renal angiomyo­lipomas with pulmonary lymphangioleiomyo­matosis in tuberous sclerosis is a rare presen­tation. [8] Bilateral renal involvement in the form of angiomyolipoma or even malignancy rarely attracts attention towards the genetic basis of these tumors. This presentation aims at consi­dering the rarity of the disease and listing it in the differential diagnosis in patients with renal, skin or neural manifestations.

 
   References Top

1.Robins' pathology, 7 th edition  Back to cited text no. 1    
2.Andrews disease of skin, clinical dermatology, 10 th edition, p: 1052  Back to cited text no. 2    
3.Lendvary TS. The tuberous sclerosis complex and its hugely variable manifestations. J Urol 2003;16:1635.  Back to cited text no. 3    
4.Blute ML. Angiomyolipoma, clinical metamor­phosis and concept of management. J Urol 1988;139:20-3.  Back to cited text no. 4    
5.O'Callaghan TJ, Edwards JA, Tobin M, Mookerjee BK. Tuberous sclerosis with striking renal involvement in a family. Arch Intern Med 1975;135:1082-7.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Fryer AE, Chalmers AH, Osborne JP. The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet 1990;27:217­23.  Back to cited text no. 6  [PUBMED]  [FULLTEXT]
7.Kossoff EH, Thiele EA, Pfeifer HH, McGrogan JR, Freeman JM. Tuberous sclerosis complex and the ketogenic diet. Epilepsia 2005;46(10): 1684-6.  Back to cited text no. 7    
8.Pancholi A, Vaidya V, Gopinath TN, Prajapati A, Kothari K, Patel V. Bilateral massive bleeding in renal angiomyolipomas with pulmonary lym­phangioleiomyomatosis in tuberous sclerosis: A rare presentation. Indian J Radiol Imaging 2006;16(4):897-900.  Back to cited text no. 8    

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Correspondence Address:
Swarup Chakraborty
Department of General Surgery, Midnapore Medical College & Hospital, Midnapore 721001, West Bengal
India
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PMID: 19587510

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    Abstract
    Introduction
    Case History
    Discussion
    Conclusion
    References
    Article Figures
 

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