Pulmonary involvement in tuberous sclerosis

Vicente, M.P.; Pons, Montserrat Espuña; Medina, Margarita

doi:10.1002/ppul.10414

Cited by 22 publications

(9 citation statements)

References 8 publications

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“…It worsens during pregnancy and with the administration of estrogens. 5,18 In the literature, it appears in 57% of the patients affected with TS, 11 whereas in our series it was diagnosed in only 7%. It was only studied in clinical cases in our group, and thus patients presenting subclinical changes were not identified.…”

Section: Discussioncontrasting

confidence: 56%

Clinical Findings in 67 Patients With Tuberous Sclerosis

Fernández‐Guarino

Boixeda

Anaya

et al. 2009

Actas Dermo-Sifiliográficas (English Edition)

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Abstract. Background. Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. Objective. To report the clinical findings in a series of 67 patients with tuberous sclerosis. Material and methods. This was a descriptive and observational retrospective study of patients with tuberous sclerosis referred to our dermatology clinics between January 1994 and March 2007. Results. All patients presented neurological or dermatological disorders. Other disorders, in descending frequency, were psychiatric (55.5 %), renal (32.8 %), cardiac (22.4 %), skeletal and pulmonary (13.4 %), and ophthalmological (11.9 %). Conclusions. We report the clinical findings in a series of patients with tuberous sclerosis. According to our literature search, this is the first such study in the Spanish population. Overall, our findings support those already published.Key words: tuberous sclerosis, skin manifestations, neurological manifestations. EsclErosis tubErosa. Hallazgos clínicos En 67 paciEntEsResumen. Introducción. La esclerosis tuberosa (ET) es un síndrome neurocutáneo infrecuente caracterizado por la aparición de hamartomas en múltiples órganos. Su diagnóstico se basa en criterios clínicos. Objetivo. Describir los hallazgos clínicos en una serie de 67 pacientes afectos de ET. Material y métodos. Llevamos a cabo un estudio retrospectivo, descriptivo y observacional de los pacientes con ET remitidos a nuestras consultas de Dermatología entre enero de 1994 y marzo de 2007. Resultados. El 100 % de los pacientes presentaron alteraciones neurológicas o dermatológicas. El resto fueron, por orden: psiquiátricas (55,5 %), renales (32,8 %), cardíacas (22,4 %), esqueléticas y pulmonares (13,4 %) y oftalmológicas (11,9 %). Conclusiones. Describimos los hallazgos clínicos en una serie de pacientes afectos de ET. Se trata, según la literatura revisada, del primer estudio de este tipo en la población española. Globalmente, nuestros datos apoyan lo hasta ahora publicado.Palabras clave: esclerosis tuberosa, manifestaciones dermatológicas, manifestaciones neurológicas.

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Section: Discussioncontrasting

confidence: 56%

Clinical Findings in 67 Patients With Tuberous Sclerosis

Fernández‐Guarino

Boixeda

Anaya

et al. 2009

Actas Dermo-Sifiliográficas (English Edition)

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“…It is most commonly first evident with progressive dyspnea and spontaneous pneumothorax in a childbearing woman. [91][92][93] Exacerbation during pregnancy and estrogen supplementation has been observed. [94][95][96] Despite its infrequent clinical presentation, the characteristic findings of LAM may be demonstrated in 57% of the female TSC population employing chest computed tomography.…”

Section: Other Manifestations Of Tscmentioning

confidence: 99%

Tuberous sclerosis complex: Advances in diagnosis, genetics, and management

Schwartz¹,

Fernández²,

Kotulska³

et al. 2007

Journal of the American Academy of Dermatology

345

304

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“…Lymphangioleiomyomatosis (aka lymphangiomyomatosis or LAM) is the most common pulmonary manifestation of TSC [16] and the third most common cause of TSC-related death [114] . LAM is characterized by diff use infi ltration of the lung with atypical smooth muscle cells and gradual cystic replacement of the pulmonary parenchyma.…”

Section: Tsc-associated Pulmonary Manifestations ▼mentioning

confidence: 99%

Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

Bissler²,

2010

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Tuberous sclerosis complex (TSC) is an important cause of epilepsy and autism, as well as renal and pulmonary disease in adults and children. Affected individuals are subject to hamartomas in various organ systems which result from constitutive activation of the protein kinase mTOR (mammalian target of rapamycin). The clinical course, prognosis and appropriate therapy for TSC patients are often different from that for individuals with epilepsy, renal tumors, or inter-stitial lung disease, from other causes. Additionally, TSC serves as a model for other conditions in which the mTOR pathways are also up-regulated. This article reviews the molecular pathophysiology and management of neurological, renal and pulmonary manifestations of the disorder. The use of mTOR inhibitors such as rapamycin and everolimus is discussed and recent clinical trials of these drugs in TSC are reviewed.

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Pulmonary involvement in tuberous sclerosis

Cited by 22 publications

References 8 publications

Clinical Findings in 67 Patients With Tuberous Sclerosis

Clinical Findings in 67 Patients With Tuberous Sclerosis

Tuberous sclerosis complex: Advances in diagnosis, genetics, and management

Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

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