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SHORT COMMUNICATION
Year : 1995  |  Volume : 61  |  Issue : 5  |  Page : 293-294

Tuberous sclerosis : A three-generation pedigree




Correspondence Address:
Srilekha Biswas


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Source of Support: None, Conflict of Interest: None


PMID: 20952993

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  Abstract 

This is a report of tuberous sclerosis in members of three generations originating from parents, both suffering from the disease. Out of 12 family members only two were exempted and clinical expression varied from minimum lesion like adenoma sebaceum only to severe mental retardation and epilepsy


Keywords: Tuberous selerosis, Autosomal dominant inheritance, Adenoma sebaceum


How to cite this article:
Biswas S, Roy KA, Ghosh KS. Tuberous sclerosis : A three-generation pedigree. Indian J Dermatol Venereol Leprol 1995;61:293-4

How to cite this URL:
Biswas S, Roy KA, Ghosh KS. Tuberous sclerosis : A three-generation pedigree. Indian J Dermatol Venereol Leprol [serial online] 1995 [cited 2019 Nov 16];61:293-4. Available from: http://www.ijdvl.com/text.asp?1995/61/5/293/4244



  Introduction Top


Tuberous sclerosis is a rare congenital disorder characterised pathologically by sclerotic masses in cerebral cortex, adenoma sebaceum and hamartoma formation in various organs; and clinically by mental retardation and epilepsy. Typical skin lesions are ash leaf macules,[1] shagreen patch and angiofibroma. Hypopigmented macules are the earliest signs and may appear in the form of "thumb print" (polygonal), "ash leaf" (lance ovale), or "confetti" (white spots). The inheritance is simple autosomal dominant and it is claimed that gene of tuberous sclerosis is located on chromosome 9P.[2] Parents may have no adonema sebaceum or neurological involvement and cases of fresh mutation may be as high as 40%. Involvement of more than one sibs is relatively common.[3]


  Care Reports Top


We are reporting a family where members of three generations are affected. Family consists of affected couple, their children and grand children. Of 12 family members 10 are affected, two males in second generation are spared. Clinical presentation varied from only benign angio fibroma to severe mental retardation and epilepsy. Members of third generation are most severely affected [Table - 1].


  Discussion Top


Reports of tuberous sclerosis in three generations are rare. Berg reported one such family in 1913.[4] There are several reports of involvement of two generations.[5]

In this study out of 10 affected in three generations, 90% had adenoma sebaceum, mean age of appearance was between 7-9 years, 30% had hypopigmented macules (this is lower than previous reports);[1] 40% had shagreen patches; 50% had epileptic fits of which one had temporal lobe type of seizure and one had infantile spasm; 70% had mental retardation; 30% had normal intelligence in spite of presence of adenoma sebaceum with or without epilepsy.

Psychiatric problems found other than retardation were paranoid psychosis in girl with temporal lobe epilepsy and hyperkinetic syndrome of childhood in a child with infantile spasm. Extreme degree of variability of expression, characteristic of the disease is clearly noticeable in the pedigree. The family tree suggests dominant mode of inheritance.

 
  References Top

1.Fitzatrick TB, Szabo G, Horir, Simon A A, Reed W B, Grunberg M H. White leaf shaped macules; earliest visible signs of tuberous sclerosis. Arch Dermatol 1968;98:1-6.  Back to cited text no. 1    
2.Fryer A.S, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;659-61.  Back to cited text no. 2    
3.Bundey S, Evans K. Tuberous sclerosis, a genetic entity. J Neurol Neurosurg Psychiat 1969;32,591.  Back to cited text no. 3    
4.Berg H. Vererbung der tuberosen Sklerose durch Zwei bz w drei Generationen. Z Ges Neurol Psychiat 1913;19:528-39.  Back to cited text no. 4    
5.Nevin N C, Pearce N G. Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet 1968;5:273.  Back to cited text no. 5    


    Tables

[Table - 1]



 

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Online since 15th March '04
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