Phenotypic spectrum of a patient with Gorlin’s syndrome and role of dermoscopy in the early detection of basal cell carcinomas

Abstract

Gorlin's syndrome is an autosomal dominant disorder, mainly characterized by the presence of multiple and early-onset basal cell carcinomas, odontogenic keratocysts and palmoplantar pits. We describe the case of a patient with clinical and imaging features of Gorlin syndrome, and highlight the role of dermoscopy in the early detection of basal cell carcinomas. In addition, we discuss the dermoscopic features of palmar pits.

Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome): A Patient Showing Distinctive Dermoscopic Features: Case Report

“…Dermoscopy is helpful not only in the early detection of basal cell carcinomas of NBCCS, but also in the management of the affected patients. [13][14][15][16][17][18][19][20] We suggest that further reports and studies are needed on the dermoscopic findings of basal cell carcinomas of NBCCS.…”

“…describing dermoscopic features of basal cell carcinomas found in NBCCS. [13][14][15][16][17][18][19][20] It is known that typical dermoscopic features of sporadic basal cell carcinomas include blue grey ovoid nests, blue grey globules, spoke-wheel areas, arborizing telangiectasias, maple-leaf like areas and ulceration. Since characteristics of basal cell carcinomas of NBCCS do not differ from characteristics of sporadic ones, it is not unpredictable to detect typical dermoscopic features including spoke-wheel areas, maple-leaf like areas, blue grey ovoid nests and ulceration in basal cell carcinomas of NBCCS.…”

“…Since characteristics of basal cell carcinomas of NBCCS do not differ from characteristics of sporadic ones, it is not unpredictable to detect typical dermoscopic features including spoke-wheel areas, maple-leaf like areas, blue grey ovoid nests and ulceration in basal cell carcinomas of NBCCS. [13][14][15][16][17][18][19][20] Moreover, it has been suggested that maple leaflike areas, short fine superficial telangiectasia, multiple small erosions, and shiny white-red structureless areas seem to be potent predictors of superficial basal cell carcinomas, whereas the presence of arborizing vessels, blue grey ovoid nests and ulceration seem to be related with non-superficial basal cell carcinomas of NBCCS. 19 We have also confirmed these findings and demonstrated that dermoscopic features of the pigmented nodule on the abdominal region of the patient included multiple large blue grey ovoid nests, arborizing vessels and an ulceration.…”

“…[1][2][3][4][5][6][7][8][9][10][11][12] However, there have been fewer reports describing dermoscopic features of basal cell carcinomas found in these patients. [13][14][15][16][17][18][19][20] Here, we present a case of NBCCS, which also presents dermoNevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome): A Patient Showing Distinctive Dermoscopic Features: Case Report A AB BS ST TR RA AC CT T Nevoid basal cell carcinoma syndrome, which is also known as Gorlin-Goltz syndrome, is an autosomal dominant disorder characterized by a wide range of clinical manifestations, including multiple early-onset basal cell carcinomas, palmoplantar pits and skeletal deformities. Although nevoid basal cell carcinoma syndrome is a rare genodermatosis, since its first description in 1960 by Gorlin and Goltz, there have been several case reports delineating diverse clinical manifestations of this unique disease.…”

Dermatoscopic predictors of the risk of recurrence of basal cell carcinoma of the skin

“…населения. Мужчины и женщины болеют примерно одинаково часто (1:1,3), фототип не имеет значения [6]. Все известные на сегодняшний день пациенты с синдромом Горлина-Гольца -носители мутации в гене PATCHED1, находящемся на длинном плече 9 хромосомы [6].…”