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

Abstract

BackgroundHereditary 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 presentationA 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.ConclusionsThis 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.

Dermoscopy of cutaneous smooth muscle neoplasms: a morphological study of 136 cases

“…The delicate pigment network is defined as the presence of thin lines of light brown colour and regular meshes, regularly distributed and gradually faded into the surrounding skin. This structure was found in 96.5% of our PL and was also the most common feature associated with PL in the literature . The histopathological correlation of the delicate pigment network was the presence of a reactive epidermal basal hyperpigmentation; the multiple hypopigmented areas, observed in 49.1% of PL, could correspond histologically to follicular openings or lack of epidermal hyperpigmentation, as we could see in some of our cases.…”

“…This structure was found in 96.5% of our PL and was also the most common feature associated with PL in the literature. [4][5][6][7][8] The histopathological correlation of the delicate pigment network was the presence of a reactive epidermal basal hyperpigmentation; the multiple hypopigmented areas, observed in 49.1% of PL, could correspond histologically to follicular openings or lack of epidermal hyperpigmentation, as we could see in some of our cases. Whitish structures, which should be lighter than normal surrounding skin, were found in 7% of PL and their histopathologic correlation could be the presence of increased or altered collagen in the superficial dermis due to the presence of proliferating smooth muscle cells intermingled with various amounts of collagen bundles, as observed in most of our cases.…”

Pilar leiomyomas: New dermoscopic pattern

“…It is similar to dermatofibroma with central hypopigmented area and peripheral network [1]. In our case the lesions presented widespread bright white areas, with a more regular shape respect to the "white like-cloud areas" reported by Diluvio et al [2].…”

Dermoscopic features of pilar leiomyomas

“…The dermoscopic features of pilar leiomyomas are not well defined . Diluvio et al . reported a delicate pink‐brown PN in all 50 lesions in a patient with segmental leiomyomas.…”