Abstract
A 55-year-old woman presented with a 2-year history of a painful nodule on her frontal scalp. The nodule gradually increased in size, and an increase in pain prompted her to visit our hospital. Physical examination revealed a dome-shaped, smooth-faced pink nodule measuring 10 x 8 mm in size. Dermoscopy showed prominent arborizing vessels against a pink background. The lesion was completely excised and histopathologically diagnosed as a cylindroma. Additionally, small dense collections of flesh-colored papules measuring 2-3 mm in size were seen on her forehead, nasolabial fold, and lower jaw. One of these was excised and histopathologically diagnosed as a trichoepithelioma. The papules did not seem to coincide with the site of a hair follicle but appeared to be milia-like cysts when observed using dermoscopy. The patient’s mother, a younger sister, two sons and a daughter related having the same symptoms and were diagnosed as having trichoepitheliomas based on assessment of a small papule present on her 29-year-old son’s face. Gene analyses from the proband and the eldest son showed a non-sense mutation in the CYLD gene, and a dominant mode of inheritance was indicated. Brooke -Spiegler syndrome is characterized by cylindromatosis with multiple trichoepitheliomas, and is a condition in which women are more severely affected than man. Long-term follow-up is necessary for this syndrome.
