Clinical, Histological and Dermoscopic Findings in Familial Cylindromatosis: a Report of Two Cases

Abstract

Cylindromas are benign appendage tumors mainly found on the scalp, but they can occur on any hair-bearing skin. Mutations in the cylindromatosis (CYLD) gene, a tumor suppressor gene located on chromosome 16q12-13, are responsible for multiple cylindromas, which are usually inherited in an autosomal dominant way, as in familial cylindromatosis and BrookeSpiegler syndrome. The latter is characterized by the presence of multiple cylindromas, multiple trichoepitheliomas and spiradenomas. Based on genetic studies and the identifi cation of heterozygous mutations in the same CYLD gene in familial cylindromatosis, multiple familial trichoepitheliomas, and the Brooke-Spiegler syndrome, it is suggested that these three conditions have the same genetic basis and are phenotypic expressions of the same disease. The diagnosis of each of the tree conditions is based on the dominant tumor type: cylindroma in familiar cyindromas, trichoepithelioma in multiple familial trichoepitheliomas, or a variety of skin appendage tumors including cylindromas, spiradenomas and trichoepitheliomas in Brooke-Spiegler syndrome. The onset of the disease is usually in the early adulthood, but may also occur in childhood or adolescence. We report on two sisters, 37 and 43 years of age, with multiple cylindromas on the face and the scalp. Both patients reported that their mother also had multiple tumors on her head. Dermoscopy revealed arborizing vessels on a white-ivory or pink background, resembling dermoscopic features of basal cell carcinoma, though histopathological analysis revealed cylindroma.In conclusion, in this study we report two cases of a very rare familial cylindromatosis, presenting with multiple benign cylidromas with dermoscopic features of basal cell carcinoma. All patients with multiple cylindromas in familial cylindromatosis should be counseled about increased risk for developing further tumors. Systemic and multidisciplinary approach with follow up is strongly recommended.

Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis

“…Basal cell nevus syndrome acral pits -flesh-colored or pinkish irregular-shaped depressed lesions containing red globules in parallel lines [66,72,79,96,100] -blue structures and microarborizing vessels (more frequently seen in childhood) [66] basal cell carcinoma absence of pigment network, maple-leaf like structures, arborizing vessels, blue/grey ovoid nests, blue/grey globules and dots, concentric structures, spoke/wheel structures, and ulceration [61,66,72,73,79,96,100,105] CYLD cutaneous syndrome trichoepithelioma arborizing vessels, multiple milia-like cysts and rosettes, whitish background [41,82,92,103] cylindroma and spiradenoma -background pink coloration with ill-defined arborizing vessels and ill-defined blue structures [65,112] white globules at the center [112] -absence of pigment network, white/ivory background, polymorphous vessels [99] Noonan syndrome with multiple lentigines lentigines pigment network, black dots or brown globules, branched streaks [44] café noir spot (melanocytic nevi or lentigo simplex) -pigment network, black dots, and dark globules [63] -branched streaks forming hyphae-like structures, light brown globules [44] The results of the risk of bias assessment of the studies are detailed in Tables A1 and A2 in the Appendix A.…”