Dermoscopy for the Pediatric Dermatologist, Part II: Dermoscopy of Genetic Syndromes with Cutaneous Manifestations and Pediatric Vascular Lesions

Abstract

Genetic syndromes including basal cell nevus syndrome (BSNS), xeroderma pigmentosum (XP), and epidermodysplasia verruciformis (EV) predispose the individual to skin cancer. Basal cell carcinomas (BCCs) often develop in patients with BCNS and XP. One of the aims of surveillance examination in these patients is to detect BCC while the tumors are still small and easy to manage. Dermoscopy, by allowing the visualization of arborizing vessels, ovoid nests, nonaggregated blue-gray globules, and spoke-wheel and leaf-like structures, can facilitate in the early detection of BCC. Patients with XP are also at risk for developing squamous cell carcinoma (SCC). Dermoscopy can assist in the early detection of these cancers by allowing the observer to visualize focal glomerular vessels, which is a common feature seen in SCC. This feature can also assist in detecting SCC developing in other syndromes such as EV and epidermolysis bullosa (EB). In addition to helping in the detection of BCC and SCC, dermoscopy can also help detect melanoma in individuals with XP and evaluate nevi developing in those with EB. This review will discuss how dermoscopy can be used in the management of patients with BSNS, XP, EV, and EB and will discuss the dermoscopic findings of vascular lesions, including pyogenic granuloma, hemangioma, port-wine stain, and lymphangioma circumscriptum.

Grouped vesicles with brown background pigmentation on the abdomen of a 9‐year‐old girl

“…The color of the vesicles ranges from clear to red or blueblack depending on the amount of blood content. Dermoscopy is very helpful to differentiate lymphangioma circumscriptum from other vascular lesions such as hemangioma, angiokeratoma, lymphangioendothelioma and angiosarcoma [2,3]. Lymphangioma circumscriptum is characterized by a lacunar pattern surrounded by paler septa, skin-colored to yellow globules next to red or blue-black globules caused by blood.…”

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

“…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.…”

“…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.…”

“…[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.…”