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Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency

Biju Vasudevan1, M P S Sawhney, S Radhakrishnan

  • 1Department of Dermatology and Venereology, Base Hospital, Delhi Cantt, New Delhi, India. biju.deepa@rediffmail.com

Indian Journal of Dermatology, Venereology and Leprology
|November 23, 2007
PubMed

A 29-year-old lady with a bad obstetric history and portal vein thrombosis, presented to the Skin OPD for facial lesions. On examination, angiofibromas on face, shagreen patch and periungual fibromas were observed. She also had dental pits and a retinal hamartoma. Investigations revealed hamartomas in the brain and kidney. Hematological work-up showed protein C and S deficiency with Factor V Leiden positivity. Except for the cutaneous symptoms, the patient did not have any clinical manifestations in other organs affected by tuberous sclerosis. A similar association of tuberous sclerosis with protein C deficiency has been reported in only one case in literature.

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