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| Year : 2009 | Volume
: 20
| Issue : 4 | Page : 652-654 |
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| Tri-filial presentation of familial tuberous sclerosis with renal tumors |
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Sushil R Ghoshal1, Shankar D Chatterjee1, Saugata Ray1, Swarup Chakraborty1, Arun Achar2, TK Pathak3
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 Publication | 8-Jul-2009 |
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 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 2021 Jan 17];20:652-4. Available from: https://www.sjkdt.org/text.asp?2009/20/4/652/53294 |
| Introduction | |  |
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 | | |
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 | | |
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 | | |
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 | | |
| 1. | Robins' pathology, 7 th edition  |
| 2. | Andrews disease of skin, clinical dermatology, 10 th edition, p: 1052 |
| 3. | Lendvary TS. The tuberous sclerosis complex and its hugely variable manifestations. J Urol 2003;16:1635. |
| 4. | Blute ML. Angiomyolipoma, clinical metamorphosis and concept of management. J Urol 1988;139:20-3. |
| 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. [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. [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. |
| 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. |
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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