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.
16-apr-2014
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/35 - MALATTIE CUTANEE E VENEREE
English
Senza Impact Factor ISI
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].
Diluvio, L; Torti, C; Terrinoni, A; Candi, E; Piancatelli, R; Piccione, E; Paternò, E; Chimenti, S; Orlandi, A; Campione, E; Bianchi, L
Articolo su rivista
File in questo prodotto:
File Dimensione Formato  
Dermoscopy as an adjuvant tool for detecting.pdf

solo utenti autorizzati

Descrizione: Articolo principale
Licenza: Copyright dell'editore
Dimensione 1.36 MB
Formato Adobe PDF
1.36 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/88494
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 12
  • ???jsp.display-item.citation.isi??? ND
social impact