title: 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.affiliation: Servicio de Reumatología, Hospital Perpetuo Socorro, Complejo Hospitalario Universitario de Badajoz, Badajoz, España. Electronic address: mcarrascocubero@gmail.com.
authors.forename: Carmen
authors.initials: C
authors.lastname: Carrasco Cubero
authors.affiliation: Centro de Salud San Fernando, Badajoz, España.
authors.forename: Verónica
authors.initials: V
authors.lastname: Bejarano Moguel
authors.affiliation: Servicio Radiodiagnóstico, Hospital Perpetuo Socorro, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
authors.forename: M Ángeles
authors.initials: MÁ
authors.lastname: Fernández Gil
authors.affiliation: Servicio de Reumatología, Hospital Perpetuo Socorro, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Álvarez Vega
mesh_terms: D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000175:diagnosis; D008875:Middle Aged; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis
keywords: Complejo diana de la rapamicina; Esclerosis tuberosa; Lupus eritematoso sistémico; Mammalian target of rapamycin; Systemic lupus erithematosus; Tuberous sclerosis