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.
Diluvio, L., Torti, C., Terrinoni, A., Candi, E., Piancatelli, R., Piccione, E., et al. (2014). Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas. BMC DERMATOLOGY, 14, 7-7 [10.1186/1471-5945-14-7].
Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas
Terrinoni, A;CANDI, ELEONORA;PIANCATELLI, RAFFAELLA;PICCIONE, EMILIO;ORLANDI, AUGUSTO;Campione, E;BIANCHI, LUCA
2014-04-16
Abstract
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.File | Dimensione | Formato | |
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