Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas
نویسندگان
چکیده
BACKGROUND Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic competence. Multiple cutaneous and uterine leiomyomatosis syndrome is a rare autosomal dominant disorder caused by the mutations of the fumarate hydratase gene, demonstrated in 80 to 100 percent of affected individuals. This can be linked to an increased risk of renal cancer in both sexes. The skin involvement is described to highlight the diagnostic role of the cutaneous counterpart in identifying this rare syndrome. CASE PRESENTATION A 37-year-old woman suffering from several uterine fibroids presented multiple, painful, papulo-nodules on her left subscapular side, both forearms and legs. The patient underwent surgery on six lesions: five were leiomyomas, whilst one was a dermatofibroma. Genetic sequencing did not evidence known fumarate hydratase gene mutations. Dermoscopy showed a brown delicate pigmented network and included leiomyomas among the non-melanocytic benign skin tumours featuring a dermatofibroma-like pattern. Abdominal computerized-tomography scan did not reveal renal cancer, but brain magnetic resonance imaging showed one asymptomatic cerebral cavernoma. The patient benefited from the surgical removal of the five larger cutaneous lesions and from gabapentin, which relieved her pain. CONCLUSIONS This observation highlights the usefulness of dermoscopy in the diagnosis of cutaneous leiomyomas disclosing multiple cutaneous and uterine leiomyomatosis syndrome. Dermoscopy should be performed for non-melanocytic multiple lesions mimicking leiomyomas in a large number of patients, to establish a strict classification and identify false negative cases or evaluate them as dermatofibromas. In this case, the dermatologist recognized the risk of renal cancer and cerebral cavernomas.
منابع مشابه
Usefulness of Dermoscopy for Detecting Skin Leiomyomas in Patient with Uterine Fibroids and Cerebral Cavernomas
متن کامل
I-50: The Effect of Uterine Leiomyomas on Reproductive Performance
Background: Uterine leiomyomas (fibroids) are now known to be highly variable in their clinical behavior and biologic basis. However, the approach to leiomyomas and their effect on fertility, miscarriage and pregnancy complications has been based on location alone. Materials and Methods: This talk with bring together published information on the effect of leiomyomas on reproductive performance ...
متن کاملI-49: Safely Extending Focused Ultrasound Surgery for Uterine Leiomyomas to Women Who Desire Future Pregnancies
Background: Focused ultrasound surgery (FUS) is a novel noninvasive surgery that results in localized tissue necrosis without any breech of the skin or other body orifice. MRI guidance provides anatomic visualization and real time thermal feedback. Our goal is to safely extend this therapy to women who desire future pregnancies. Materials and Methods: We have undertaken 4 multisite trials of FU...
متن کاملMultiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43.
Cutaneous leiomyomas, rare benign tumors originating from the arrector pili muscle of the hair follicle, can be associated with the common uterine fibroids in a syndrome called multiple cutaneous and uterine leiomyomas. Multiple cutaneous and uterine leiomyomas are inherited as an autosomal dominant trait, providing an excellent opportunity for the study of the common non-Mendelian manifestatio...
متن کاملAssessment of patient entrance skin dose (ESD) and effective dose (ED) for the most common interventional radiological exams at Mazandaran hospital
Introduction: Nowadays we are witnessing an exponential application of interventional radiology techniques in various communities as well as Iran. Radiological technique is regarded as the 2nd contributing factor in increasing the amount of public doses in various societies. So that related radiation protection organization has recommended measuring patient d...
متن کامل