Pathology of Cylindroma           

Dr Sampurna Roy MD        

The tumour showed apocrine and trichoepitheliomatous differentiation which indicated complex hair follicle (folliculo-sebaceous-apocrine). According to recent studies immunohistochemical examination has shown myoepithelial, apocrine, eccrine, ductal, and secretory features in both cylindromas and spiradenomas.

Brooke-Spiegler syndrome represents an autosomal dominant disease characterized by the occurrence of multiple cylindromas, trichoepitheliomas and (sporadically) spiroadenomas.

Clinical presentation: 

Clinically, the tumour usually presents as a solitary, slow growing rubbery lesion.

This form is also known as 'turban tumour' and may be associated with spiradenoma.

Some of these lesions are painful.

Site:  Usually located on the scalp, head and neck or trunk.

Note: Familial cylindromatosis is a genetic disorder inherited in an autosomal manner. In this disorder numerous benign adnexal tumours develop in the head and neck region. It is caused by mutation of the CYLD gene on chromosome 16q12–13.

Differential Diagnosis:

Spiradenoma- Lack of lymphoid tissue in cylindroma and presence of variable number of dendritic Langerhans cells in the tumour. These cells are CD1a positive.

Malignant Cylindroma:

Cylindromas occasionally undergo malignant transformation.

Malignant cylindromas are characterised by islands of cells displaying marked nuclear pleomorphism.

There is increase in mitosis and many abnormal forms are identified.

The tumour shows invasion into the surrounding tissue and loss of the delicate hyaline sheath.

Educational Gif  -  Pathology of Cylindroma

Brooke-Spiegler Syndrome-[Pathology Infographic]

Dermatopathology Case

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.

Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome.

Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma.

Blaschkoid distribution of cylindromas in a germline CYLD mutation carrier.

Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas.

Malignant cylindroma of the scalp arising in a setting of multiple cylindromatosis: a case report.