Journal of Case Reports in Medical Science

Background: CYLD cutaneous syndrome (CCS), formerly known as Brooke–Spiegler syndrome, is a rare autosomal dominant genodermatosis caused by pathogenic variants in the CYLD gene. It is characterized by the development of multiple skin adnexal tumours, including cylindromas, spiradenomas, and trichoepitheliomas, which may progressively coalesce into a scalp "turban tumour."

Aims: To report a rare case of advanced CYLD cutaneous syndrome with multifocal cylindromas and spiradenomas culminating in a giant turban tumour, and to highlight the clinical, dermoscopic, histopathological, and management features that facilitate diagnosis.

Case Presentation: An 81-year-old woman presented with multiple cutaneous tumours affecting the scalp, face, trunk, and extremities since the age of 19. The scalp lesions progressively coalesced into a classical turban tumour. Two distinct tumour morphologies were identified clinically: painless skin-coloured cylindromas and tender violaceous spiradenomas. A positive family history involving two affected children suggested autosomal dominant inheritance. Histopathological examination of the excised dominant scalp lesion, reviewed by the CARADERM national rare skin tumour network, confirmed a benign hybrid cylindrospiradenoma without malignant transformation. Immunohistochemistry demonstrated diffuse SOX10 positivity, focal EMA expression, negative BerEP4, androgen receptor and CD45, with a Ki-67 proliferation index below 5%. Germline CYLD genetic testing was initiated.

Discussion: This case illustrates the diagnostic value of combining clinical examination, dermoscopy, histopathology, immunohistochemistry, and expert multidisciplinary review in recognizing CYLD cutaneous syndrome. It also highlights the importance of early diagnosis, genetic counselling, and lifelong surveillance because of the risk of malignant transformation.

Conclusion: Advanced CYLD cutaneous syndrome should be suspected in patients presenting with multiple familial adnexal tumours, particularly when cylindromas and spiradenomas coexist. Referral to specialized rare-tumour networks facilitates accurate diagnosis and appropriate management, while long-term follow-up and genetic counselling remain essential components of care.