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Do cutaneous manifestations predict systemic manifestations of Tuberous sclerosis complex? - A study of 50 patients


Januka Galahitiyawa ,

Base hospital Warakapola (Study done while working at Colombo South Teaching Hospital, Kalubowila), LK
About Januka

Consultant Dermatologist,


(Study done - Senior Registrar in Dermatology at Colombo South Teaching Hospital Kalubowila)

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Jithangi Wanigasingha,

Department of Paediatrics, Faculty of Medicine, University of Colombo, LK
About Jithangi

Consultant Paediatric Neurologist,

Senior Lecturer in Paediatrics

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Mahel Chintana Bandara Galahitiyawa,

Sri Jayawardhanapura General Hospital, Thalapathpitiya, Nugegoda, LK
About Mahel
Consultant Nephrologist
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Jayamini Seneviratne

Lady Ridgeway Hospital for Children, Colombo 8, LK
About Jayamini

Associate Professor of Dermatology

Consultant Paediatric Dermatologist.


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Background: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome, characterized by the development of multiple hamartomas resulting in multisystem involvement. To date there is little evidence of biomarkers to indicate the different tissues being involved in TSC.

Objectives: To describe the cutaneous, neurological and other system manifestations of TSC in children and to determine the association between cutaneous manifestations and central nervous system, renal, cardiac and ocular involvement.

Method: All children with TSC attending the Lady Ridgeway Hospital for Children, Sri Lanka, over a period of two years were evaluated for clinical manifestations and imaging findings.

Results: There were 50 children with TSC during the study period. The median age was 42 months and first clinical presentation was with neurological manifestations in 58%, cutaneous manifestations in 36%, renal manifestations in 2% and cardiac manifestations in 2%. Seventy eight percent presented during infancy, 67% with neurological manifestations. All children had cutaneous features, 43 had neurological features whilst 16, 12 and 8 patients had renal, cardiac and ocular abnormalities respectively. The most common cutaneous manifestation was ash leaf macule (92%) which was present at birth in 87% cases. Most common neurological complication was epilepsy (91%). Statistically significant associations were found between a) fibrous plaque of forehead with ipsilateral structural cerebral lesions or contralateral seizures (p<0.01) and b) shagreen patches (p<0.001) and angiofibromas of the face (p<0.001) with renal manifestations. Shagreen patch was associated with ipsilateral renal involvement.

Conclusions: Fibrous plaque of forehead may be considered a cutaneous marker of ipsilateral central nervous system manifestations, Angiofibromas of the face and shagreen patches may be considered as markers of renal involvement.

Sri Lanka Journal of ChildHealth, 2015; 44(2): 97-102

Keywords: Tuberous sclerosis
How to Cite: Galahitiyawa, J., Wanigasingha, J., Galahitiyawa, M.C.B. and Seneviratne, J., 2015. Do cutaneous manifestations predict systemic manifestations of Tuberous sclerosis complex? - A study of 50 patients. Sri Lanka Journal of Child Health, 44(2), pp.97–102. DOI:
Published on 11 Jun 2015.
Peer Reviewed


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