Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency.
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.
Vasudevan
Biju
B
Department of Dermatology and Venereology, Base Hospital, Delhi Cantt, New Delhi, India. biju.deepa@rediffmail.com
Sawhney
M P S
MP
Radhakrishnan
S
S
Shilpa
G
G
D000328:Adult; D018322:Angiofibroma / Q000150:complications; D001927:Brain Diseases / Q000150:complications; D003750:Dental Fissures / Q000150:complications; D005153:Facial Neoplasms / Q000150:complications; D005260:Female; D005350:Fibroma / Q000150:complications; D006222:Hamartoma / Q000150:complications; D006801:Humans; D007674:Kidney Diseases / Q000150:complications; D011169:Portal Vein; D020151:Protein C Deficiency / Q000150:complications*; D018455:Protein S Deficiency / Q000150:complications*; D012164:Retinal Diseases / Q000150:complications; D013927:Thrombosis / Q000150:complications*; D014402:Tuberous Sclerosis / Q000150:complications*