title: Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Dermatology, University of Tor Vergata, Rome, Italy. lauradiluvio@yahoo.it.
authors.forename: Laura
authors.initials: L
authors.lastname: Diluvio
authors.forename: Claudia
authors.initials: C
authors.lastname: Torti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Terrinoni
authors.forename: Eleonora
authors.initials: E
authors.lastname: Candi
authors.forename: Raffaella
authors.initials: R
authors.lastname: Piancatelli
authors.forename: Emilio
authors.initials: E
authors.lastname: Piccione
authors.forename: Evelin Jasmine
authors.initials: EJ
authors.lastname: Paternò
authors.forename: Sergio
authors.initials: S
authors.lastname: Chimenti
authors.forename: Augusto
authors.initials: A
authors.lastname: Orlandi
authors.forename: Elena
authors.initials: E
authors.lastname: Campione
authors.forename: Luca
authors.initials: L
authors.lastname: Bianchi
mesh_terms: D000328:Adult; D058070:Asymptomatic Diseases; D016543:Central Nervous System Neoplasms / Q000175:diagnosis*; D046169:Dermoscopy; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis*; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009386:Neoplastic Syndromes, Hereditary; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000473:pathology; D014594:Uterine Neoplasms / Q000175:diagnosis* / Q000473:pathology
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