کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3182246 | 1200645 | 2015 | 9 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Multiple Cutaneous and Uterine Leiomyomatosis or Reed Syndrome: A Retrospective Study of 13 Cases Multiple Cutaneous and Uterine Leiomyomatosis or Reed Syndrome: A Retrospective Study of 13 Cases](/preview/png/3182246.png)
BackgroundMultiple cutaneous and uterine leiomyomatosis (MCUL), or Reed syndrome, is characterized by the presence of cutaneous leiomyomas arising from the arrector pili muscles and, in women, by uterine leiomyomas. In some cases, MCUL is associated with renal cell carcinoma. This syndrome is an autosomal dominant disorder caused by a heterozygous germline mutation of the gene that encodes fumarate hydratase, a Krebs cycle enzyme that acts as a tumor suppressor.ObjectiveTo review the cases of MCUL diagnosed at 2 university hospitals over a 5-year period (2008-2013).Material and methodsThis was a retrospective study of 13 cases of MCUL that investigated demographic, clinical, and histologic characteristics, as well as possible associations with other diseases and treatments received.ResultsWe identified 13 patients (10 women and 3 men) who had been diagnosed with MCUL. The mean age at diagnosis was 53 years. All the patients had multiple cutaneous leiomyomas; in 12 (92%) the distribution was clustered and 9 (69%) also had disseminated solitary lesions. In 1 patient (7.7%), the pattern of distribution was linear. Uterine fibroids requiring hysterectomy were present in 90% of the women. Nine patients were screened for renal lesions; no cases of renal cell carcinoma were detected but benign renal lesions were found in 4 patients.ConclusionsThe clinical and histologic characteristics of the 13 cases of MCUL reviewed were similar to those reported in the literature. The most common cutaneous manifestation was a type 2 segmental pattern. It is important for dermatologists to identify cutaneous leiomyomas and be aware of the possible association with MCUL.
ResumenIntroducciónLa leiomiomatosis cutánea y uterina múltiple (MCUL) o síndrome de Reed se caracteriza por la presencia de leiomiomas cutáneos de origen pilar, leiomiomas uterinos en las mujeres y, en algunos casos, asociación con carcinoma renal. Este síndrome, de herencia autosómica dominante, se produce por una mutación heterocigótica en la línea germinal del gen de la fumarato hidratasa, una enzima del ciclo de Krebs que actúa como supresor tumoral.ObjetivoRevisar los casos de MCUL diagnosticados en 2 hospitales universitarios durante un periodo de 5 años (2008-2013).Material y métodosEstudio retrospectivo de 13 casos de MCUL, en el que se recogieron características demográficas, clínicas e histológicas, así como posibles asociaciones con otras enfermedades y tratamientos recibidos.ResultadosTrece pacientes fueron diagnosticados de MCUL (10 mujeres y 3 hombres, con una edad media al diagnóstico de 53 años). El 100% de los casos presentaba leiomiomas cutáneos múltiples, distribuidos de forma difusa (69%), agrupada (92%) y/o lineal (7,7%). El 90% de las mujeres presentaba además miomas uterinos y todas ellas habían precisado histerectomía por ese motivo. No encontramos ningún caso de carcinoma renal en los pacientes explorados (9/13), pero sí lesiones renales benignas (4/9).ConclusiónDescribimos 13 casos de MCUL, que presentan características clínicas e histológicas similares a las descritas en la literatura, siendo la manifestación cutánea más frecuente la segmentaria tipo 2. Es importante que el dermatólogo identifique los casos de leiomiomas cutáneos y conozca su posible relación con MCUL.
Journal: Actas Dermo-Sifiliográficas (English Edition) - Volume 106, Issue 2, March 2015, Pages 117–125