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17.
Invest Clin ; 57(1): 59-65, 2016 Mar.
Article in Spanish | MEDLINE | ID: mdl-27382802

ABSTRACT

We report the case of a 56 year-old male with an atypical leiomyoma in the context of a cutaneous leiomyomatosis and a family history of uterine leiomyomatosis. The genetic study revealed a mutation in the gene for the enzyme fumarate hydratase, but he has not had any renal malignancy so far. Atypical leiomyoma is a rare tumor that usually presents as a single lesion and is exceptional in patients with cutaneous leiomyomatosis. The relation between fumarate hydratase enzyme mutations with multiple leiomyomas, uterine leiomyomatosis and an increased risk of developing kidney cancer is widely known. However, the role of these mutations in the development of atypical leiomyomas is still impossible to clarify given the few cases reported in the literature.


Subject(s)
Fumarate Hydratase/genetics , Leiomyomatosis/genetics , Mutation , Skin Neoplasms/genetics , Humans , Leiomyoma/enzymology , Leiomyoma/genetics , Leiomyoma/pathology , Leiomyomatosis/enzymology , Leiomyomatosis/pathology , Male , Middle Aged , Skin Neoplasms/enzymology , Skin Neoplasms/pathology
18.
Invest. clín ; 57(1): 59-65, mar. 2016. ilus
Article in Spanish | LILACS | ID: biblio-841099

ABSTRACT

Se presenta un varón de 56 años con un leiomioma atípico en el contexto de una leiomiomatosis cutánea, con antecedentes familiares de miomatosis uterina y con estudio genético que revela una mutación en el gen de la enzima fumarato hidratasa, sin que hasta el momento presente ningún tipo de neoplasia maligna renal. El leiomioma atípico es un tumor poco frecuente, que usualmente ocurre de forma aislada, siendo excepcional la presentación en pacientes con leiomiomatosis cutánea. Es ampliamente conocida la relación de la mutación de la enzima fumarato hidratasa con leiomiomas mútiples, miomas uterinos y el mayor riesgo de desarrollar cáncer renal; sin embargo, el papel de esta mutación en el desarrollo de leiomiomas atípicos es por hoy imposible de esclarecer debido a los escasos casos recogidos en la literatura.


We report the case of a 56 year-old male with an atypical leiomyoma in the context of a cutaneous leiomyomatosis and a family history of uterine leiomyomatosis. The genetic study revealed a mutation in the gene for the enzyme fumarate hydratase, but he has not had any renal malignancy so far. Atypical leiomyoma is a rare tumor that usually presents as a single lesion and is exceptional in patients with cutaneous leiomyomatosis. The relation between fumarate hydratase enzyme mutations with multiple leiomyomas, uterine leiomyomatosis and an increased risk of developing kidney cancer is widely known. However, the role of these mutations in the development of atypical leiomyomas is still impossible to clarify given the few cases reported in the literature.


Subject(s)
Humans , Male , Middle Aged , Skin Neoplasms/genetics , Leiomyomatosis/genetics , Fumarate Hydratase/genetics , Mutation , Skin Neoplasms/enzymology , Skin Neoplasms/pathology , Leiomyomatosis/enzymology , Leiomyomatosis/pathology , Leiomyoma/enzymology , Leiomyoma/genetics , Leiomyoma/pathology
19.
Wounds ; 28(2): E6-9, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26891140

ABSTRACT

The presence of a subcutaneous foreign body may not be easily suspected after the initial history and exploration of the patient. The authors report a 54-year-old male who came to the Department of Dermatology, Hospital Universitario de Fuenlabrada, Madrid, Spain with a firm plaque, fixed to deep structures, which showed several draining orifices over the costal grid. After several tests, the authors performed an ultrasonography that revealed the presence of a fistula from a foreign body secondary to a previously untreated costal fracture that occurred several years before. The authors believe ultrasonography is a readily available and useful tool that may help dermatologists in daily clinical practice, with the advantage of being a noninvasive test.


Subject(s)
Foreign Bodies/diagnostic imaging , Thorax , Ultrasonography , Humans , Male , Middle Aged , Rib Fractures/blood , Rib Fractures/complications
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