Coincidence of tuberous sclerosis and systemic lupus erythematosus-a case report.

Abstract

Tuberous sclerosis, also called Bourneville Pringle disease, is a phakomatosis with potential dermal, nerve, kidney and lung damage. It is characterized by the development of benign proliferations in many organs, which result in different clinical manifestations. It is associated with the mutation of two genes: TSC1 (hamartin) and TSC2 (tuberin), with the change in the functionality of the complex target of rapamycin (mTOR). MTOR activation signal has been recently described in systemic lupus erythematosus (SLE) and its inhibition could be beneficial in patients with lupus nephritis. We report the case of a patient who began with clinical manifestations of tuberous sclerosis complex (TSC) 30 years after the onset of SLE with severe renal disease (tipe IV nephritis) who improved after treatment with iv pulses of cyclophosphamide. We found only two similar cases in the literature, and hence considered the coexistence of these two entities of great interest.

• Authors: Carmen Carrasco Cubero, Verónica Bejarano Moguel, M Ángeles Fernández Gil, Jose Luis Álvarez Vega
• Journal: Reumatologia clinica (Reumatol Clin) 2016 Jul-Aug Vol. 12 Issue 4 Pg. 219-22 ISSN: 1885-1398 [Electronic] Spain
• Vernacular Title: Asociación lupus eritematoso sistémico y esclerosis tuberosa, un caso.
• PMID: 26526985 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Topics

• Female
• Humans
• Lupus Erythematosus, Systemic (complications, diagnosis)
• Middle Aged
• Tuberous Sclerosis (complications, diagnosis)