<abstract xmlns="http://www.w3.org/1999/xhtml">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 Brooke-Spiegler syndrome. The latter is characterized by the presence of multiple cylindromas, multiple trichoepitheliomas and spiradenomas. Based on genetic studies and the identification 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.</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 Brooke-Spiegler syndrome. The latter is characterized by the presence of multiple cylindromas, multiple trichoepitheliomas and spiradenomas. Based on genetic studies and the identification 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.

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

Clinic of Skin and Venereal Diseases, Clinical Center of Niš, Serbia

Faculty of Medicine, University of Niš, Serbia

Institute of Pathology, Clinical Center of Niš, Serbia

Serbian Journal of Dermatology and Venereology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Kliničke, histološke i dermoskopske karakteristike familijarne cilindromatoze – prikaz dva slučaja

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...

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

Publicado en línea: 10 dic 2015

Páginas: 75 - 82

DOI: https://doi.org/10.1515/sjdv-2015-0008

Palabras clave
Neoplasms, Multiple Primary, Dermoscopy, Skin Neoplasms, Scalp, Neoplastic Syndromes, Hereditary, Case Reports, Mutation, Histological Techniques

© 2015 Danica Tiodorović et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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

Publicado en línea: 10 dic 2015

Páginas: 75 - 82

DOI: https://doi.org/10.1515/sjdv-2015-0008

Palabras claveNeoplasms, Multiple Primary, Dermoscopy, Skin Neoplasms, Scalp, Neoplastic Syndromes, Hereditary, Case Reports, Mutation, Histological Techniques

© 2015 Danica Tiodorović et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Palabras clave
Neoplasms, Multiple Primary, Dermoscopy, Skin Neoplasms, Scalp, Neoplastic Syndromes, Hereditary, Case Reports, Mutation, Histological Techniques