Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas

BMC Family Practice

Luca Bianchi⁵  Elena Campione⁵  Augusto Orlandi²  Sergio Chimenti⁵  Evelin Jasmine Paternò⁴  Emilio Piccione¹  Raffaella Piancatelli¹  Eleonora Candi³  Alessandro Terrinoni³  Claudia Torti⁵  Laura Diluvio⁵ 

[1]Department of Gynecology and Obstetrics, University of Tor Vergata, Rome, Italy

[2]Department of Anatomic Pathology, University of Tor Vergata, Rome, Italy

[3]Department of Experimental Medicine, University of Tor Vergata, Rome, Italy

[4]Dermatologist in Rome, Rome, Italy

[5]Department of Dermatology, University of Tor Vergata, Rome, Italy

关键词: Differential diagnosis;    Dermatofibroma;    Dermoscopic pattern;    Cutaneous leiomyoma;   

Others  :  855016
DOI  :  10.1186/1471-5945-14-7

 received in 2014-01-04, accepted in 2014-04-02,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Diluvio et al.; licensee BioMed Central Ltd.

【 图 表 】

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