Leiomioma cutáneo atípico en un paciente con leiomiomatosis cutánea y mutación de la enzima fumarato hidratasa / Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase

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.

MULTIPLE CUTANEOUS PILOLEIOMYOMA WITH UTERINE FIBROIDS (REED’S SYNDROME): A RARE CASE REPORT

Cutaneous leiomyomas comprise approximately 5% of all leiomyomas. Solitary occurrence is more common than generalized. Multiple cutaneous piloleiomyomas are rare, painful and difficult-to-treat benign tumors originating in the arrectores pilorum muscles of the hair follicles. Multiple Cutaneous piloleiomyomas are associated with uterine fibroids in women (Reed’s syndrome) and it is a marker of a condition called hereditary leiomyomatosis and renal cell cancer (HLRCC). We report a case of multiple cutaneous piloleiomyoma with uterine fibroid in an adult female. Because of its rarity and association with renal cell cancer, it deserves a mention in literature.

Cutaneous leiomyoma of scalp: a rare case report with review of literature.

Skin is the largest organ of the body and many types of tumor arises from different part of skin layer. A leiomyoma is an uncommon, benign tumour of smooth muscle of skin derived from the arrector pili muscle of skin. These lesions can develop wherever smooth muscle is present, but malignant transformation probably does not occur. Cutaneous leiomyomas or piloleiomyomas appear as small (0.5-2 cm) firm skin coloured nodules. They arise from the arrector pili muscles which are responsible for making your hairs stand on end. Multiple lesions may develop, often in clusters and commonly in a segmental distribution. These nodules are benign, so are only of concern because of their appearance or their tendency to be tender if knocked. Female patients with cutaneous leiomyomas may also develop uterine leiomyomas (fibroids), and very rarely leiomyomas can be associated with renal cell carcinoma (hereditary leiomyomatosis and renal cell cancer). We report a case cutaneous leiomyoma of scalp in a 22 year old male who present with the complaints of scalp swelling.

A Case of Reed's Syndrome / 대한피부과학회지

Reed's syndrome is characterized by multiple cutaneous and uterine leiomyomas. The pattern of inheritance is consistent with autosomal dominant transmission. The affected families often reveal uterine leiomyomas and they have a predisposition to renal cell carcinoma. Here, we report a 51 year-old woman diagnosed with Reed's syndrome and renal angiomyolipoma. Due to the possibility of renal cell carcinoma, Reed's syndrome patients should be evaluated on the basis of renal disease.

A Case of Cutaneous Leiomyoma Presenting as a Large Nipple / 대한피부과학회지

Cutaneous leiomyoma is a rare, benign tumor of smooth-muscle fibers. Five types of cutaneous leiomyoma include multiple piloleiomyomas, solitary piloleiomyoma, solitary genital leiomyoma, solitary angioleiomyoma and leiomyoma with additional mesenchymal elements. Genital leiomyoma is uncommon, and leiomyomas of the nipple is a rare type of genital leiomyoma. We report a case of cutaneous leiomyoma presenting as a large nipple in a middle-aged woman.

A Case of Cutaneous Leiomyoma Clinically Mimicking Mondor's Disease / 대한피부과학회지

A 45-year-old man presented with linear cord-like nodules on the left chest and abdomen. He complained of episodic pain and mild tenderness of the lesion. The clinical impression was Mondor's disease and skin biopsy was done. The histopathologic findings revealed a poorly circumscribed tumor composed of interlacing smooth muscle fiber bundles with intermingled collagen, consistent with cutaneous leiomyoma. We report a case of cutaneous leiomyoma clinically mimicking Mondor's disease.

A Case of Linear Multiple Cutaneous Leiomyoma / 대한피부과학회지

We report a case of linear arranged multiple cutaneous leiomyoma in a 45-year-old man. About 20 years ago, multiple normal skin colored firm papules developed on the left anterior chest and increased in number and size arranging in linear pattern. Some larger nodular lesions changed into brown in color and became painful after cold exposure. The lesions looked like keloid at first sight but the histopathologic finding showed typical leiomyoma in which the interlacing bundles of smooth muscle fibers with varying amount of collagen bundles intermingled.

Cutaneous leiomyoma-a clinical and histopathological study / 대한피부과학회지

We reviewed 50 skin biopsies obtained from 40 patients with cutaneous leiomyoma during a 10 year period from January 1980 to December 1989. The result.s were summarized as follows: 1) Sex distribution showed a female preponderance with male.female ratio of 1: 1.9. 2) The age distribution was relatively even from childhood to old age. The mean age was 47,8 years, 3) The most common site of lesion was lower leg(34%) followed by hand(24%), foot(12% ), anterior chest(8% ), face(6% ), neck(4%), upper arm(4% ), labia major(2 %) and nipple(2%). 4) The lesions were relatively well circumscribed subcutaneous nodule, papule, plaque and nodule which measured between 0.3cm to 5cm in size and their colors were erythematous to light brown. 5) The most common clinical and histopathologic type was angioleiomyoma(75%) followed by solitary piloleiomyoma(12.5%), multiple piloleiomyoma(7,5%) and solitary genital leiomyoma(5% ). Angioleiomyomas were clincally associated with cavernous hemangioma, myoma of uterus and systemic lupus erythematosus. 7) The clinical diagnoses were mass(30% ), epidermal cyst(20%), dermatofibroma (12.5% ), leiomyoma(12,5%), neurilemmoma(5%), lipoma(5%), calcifying epithelioma(2.5%), metastatic carcinoma(2.5%), morphea(2.5% ), fibrocystic disease(2.5%), glomus tumor(2.5 % ) and Dupuytrens contracuture(2..5%).