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3.
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
4.
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
5.
Photodermatol Photoimmunol Photomed ; 28(2): 102-4, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22409714

ABSTRACT

Folliculitis decalvans is a chronic form of deep folliculitis that occurs on the scalp as patches of scarring alopecia at the expanding margins of which are follicular pustules. Treatment of folliculitis decalvans is extremely difficult with a resultant poor prognosis. Photodynamic therapy has been reported to be effective in disorders as acne or folliculitis. We report one patient with folliculitis decalvans who was successfully treated with photodynamic therapy.


Subject(s)
Folliculitis/drug therapy , Photochemotherapy , Adult , Female , Humans , Prognosis
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