Abstract
This case report describes the diagnosis and therapy of a patient with a 40-year history of multiple potato-like tumours growing in the head and neck region. The tumour proved to be a cylindroma, associated with calvarian defects. Further facial tumours were diagnosed as trichoepitheliomas. This association of findings was pathognomonic for Brooke-Spiegler's syndrome. Complete work-up of the resection specimen excluded any malignant transformation of the tumour. A long lasting history of cylindroma and evidence for bone destruction, not associated with a malignant transformation, is extremely rare in Brooke-Spiegler's syndrome.
Cylindroma is a slow growing, benign tumour of the skin (1), affecting preferentially the head and neck region, especially the capillitium and forehead (2, 3). The term “turban tumour” is used to describe the topography of the tumour and its pathognomonic size (4-10). A turban tumour can grow to an enormous size (covering the whole scalp) and cause severe disfigurement. However, other regions of the body can also be affected by cylindromas (11, 12), which may also occur exclusively outside of the head and neck area (1, 13). To date, there has been no report on bone destruction associated with the occurrence of a turban tumour. Indeed, it is generally accepted that bone defects in a cylindroma are signs of malignant transformation (14, 15). This case report describes the investigation and treatment of one patient with a histologically proven cylindroma of the scalp and ears (16), who had developed multiple defects of the neurocranium subjacent to the tumour. Long-term follow-up did not show any sign of malignant transformation, but only small diversely localised recurrences of the cylindroma in the head and neck.
Case Report
Patient. A seventy-five-year-old woman was referred to the Department of Oral and Maxillofacial Surgery from the Department of Dermatology, Eppendorf University Hospital, for treatment of an extensive cylindroma of the entire scalp. The patient first sought for medical advice in the University Hospital 4 years previously but had refused any surgical treatment (Figure 1). On presentation, the patient was in generally good condition. The primary reason the patient decided to seek surgical treatment was an ill-fit of her wig (Figure 2). The patient's medical history showed an early onset of the enlargement of the skin of her skull and the development of potato-like tumours about 40 years earlier. At the same time, she noticed a growing baldness in the area of tumour growth and started wearing a wig. The patient could not provide information about her family history because she and her sister had been adopted as very small children and never knew their parents. She had lost all contact with her sister several decades previously. Thus, the possibility of hereditary or sporadic tumour development could not be established.
At the time of attendance, the tumour had grown circular around the capillitium, infiltrated both auricles, and further tumours of the head and neck area had grown on her chin and neck. On her face, especially at the nasolabial folds, multiple small tumours were seen resembling trichoepitheliomas. A total body examination revealed further trunk skin tumours.
Investigations. Computed tomography and magnetic resonance imaging depicted a large extracranial tumour with multiple septae, partially cystic or solid, with a maximum thickness of 5 cm (Figure 3). Defects of the cortical bone were identified bilaterally in the parietal region. These defects were associated with a honeycomb-like cystic arrosion of the adjacent calvaria (Figure 4). On the right side, the bone-destroying tumour was close to the dura (Figure 5). Angiography of the common and external carotid arteries revealed numerous wavy-lined and elongated arteries inside the tumour (Figure 5). The occipital and the superficial temporal arteries were judged to be the nutrient vessels of the tumour. The internal carotid artery did not supply the tumour.
Right lateral aspect of the patient on her first attendance at the age of 71 years.
Right lateral aspect of the patient on at the age of 75 years. Note the enlargement of the tumour masses and the displacement of the right pinna due to the pressure of the tumour.
Therapy. The scalp was completely excised under general anaesthesia so that the tumour could be resected. The resection slices were 28 cm × 18 cm × 6 cm and 30 cm × 20 cm × 6 cm, respectively. The maximum diameter of single nodules was 8 cm. In this first operation, the bone was left intact in order to gain histological information of the tumour biology prior to intracranial procedures. The defect was temporarily covered. Histopathological work-up of the whole specimen revealed a cylindroma in all sites and excluded malignant transformation. A second operation was carried out to resect the residual tumour and the subjacent bone defects. Two craniotomies were performed to resect the residual tumour. Both the intracavitary tumour and adjacent bone were excorporated. The largest defect was about 3 cm in maximum diameter. The dura was not invaded by the tumour and remained uninjured during the surgical manipulations. Multiple split-skin grafts were harvested to cover the calvarium completely. Healing of the wounds and recovery of the patient were both uneventful (Figure 6). The same differentiation of cylindroma was found in the bony defects as in the large resection specimens (Figure 7). The periosteum was not infiltrated by the tumour. The tumours of the pinna caused mechanical impairment of hearing. After re-epithelialisation of the scalp, a third operation was performed to reduce the auricular cylindromas, especially to contour the auditory meatus. Additionally, the cylindromas of the chin and the nasolabial tumours were excised, the latter proving to be trichoepitheliomas. Thirty-six months after initial surgery, the patient was doing well with no signs of local recurrence and only some solitary tumours developing in her neck.
Coronal magnetic resonance imaging of the head. Large cystic areas are revealed inside the turban tumour. In the area of bone destruction the tumour cannot be differentiated clearly from the brain.
The computed tomography of the skull reveals a sharply demarcated osseous defect of the right parieto-occipital region.
Angiographic radiogram depicting the feeding arteries of the tumour. The arteries originate from branches of the external carotid artery.
Postoperative lateral aspect of the patient. Note the parieto-occipital calvarian defect.
Biopsy of the resection specimen. The adenomateous tumour is segregated by thick septae, typical of a cylindroma. Hematoxylin-eosin, primary magnification ×120.
Discussion
A patient with a turban-like tumour was first reported by Ancell (17). The clinicopathological features of cylindroma were described in detail by Spiegler (3) and Brooke (5). The cylindroma of the skin arises from eccrine or apocrine glands (18). The tumour forms thick layers of collagen-rich extracellular matrix (11, 19, 20).
The medical history of patients with cylindroma usually covers years or even decades of their life. Women are affected predominantly, with the male-to-female ratio ranging from 1:3 to 1:9 (3, 9). A cylindroma may occur in either solitary or multiple lesion form. The solitary type is usually of sporadic origin, whereas the multiple-lesion type is often a predominantly inherited disease (12). These tumours can vary in size from papules to large dome-shaped nodules. The capillitium is the most frequently affected site in the head and neck area (7-9, 17). Other anatomical regions of the face and neck are occasionally covered by cylindromas (16) and these tumours can also be found in the skin of the trunk, arms and legs (4, 21). The diameter of these tumours rarely exceeds 4-6 cm (22).
Brooke-Fordyce trichoepitheliomas are frequently found in patients with dermal cylindromas (5). The term “Brooke-Spiegler” syndrome reflects this close association of cylindroma and trichoepithelioma as pathognomonic features of this syndrome. Further studies revealed the evidence of a single genetic entity for these phenotypes (23), which was recently linked to having a molecular basis (24, 25). In the current case, there was no information regarding family history (24); however, there was evidence of trichoepitheliomas of the nasolabial fold (12). Therefore, the reported case fulfilled the main diagnostic criteria of a Brooke-Spiegler-syndrome.
The macroscopic differential diagnosis of a cylindroma includes a variety of skin tumours, such as trichoepithelioma, tricholemmoma, basal cell carcinoma, angiolymphoid hyperplasia (26) or neurofibromatosis (1, 27). The tentative diagnosis of this benign tumour, based on physical examination, may not be hampered in cases with an excessive growth resembling a turban. However, malignant transformation of a cylindroma has to be considered (28). Thus, thorough investigation of patients with turban tumour is imperative. The penetration of bone by local extension in a case of cylindroma contains a reference to a malignant transformation (14).
The extension of the tumour is best depicted with magnetic resonance or computed tomography. Angiography may disclose hypertrophied branches of the external carotid artery supplying the turban tumour (7).
Treatment consists of surgical excision (7, 29-33). In extensive lesions, resurfacing with split skin-grafts is the method of choice for covering the defects (4, 7, 29-31).
The pinna can be severely affected by cylindroma, causing further disfigurement and hearing impairment. Surgical resection of the tumour masses with reconfiguration of the auricle and outer meatus has prompted acceptable results (7, 12).
To the Author's best knowledge, there has been no prior report of a cylindroma of the head and neck region (turban tumour) where evidence was presented for multiple lesions of the calvarium and definitive exclusion of malignant transformation proved during a follow-up period of 36 months.
Acknowledgements
The expert histological diagnosis of the resection specimen provided by Professor Dr. mult. K. Donath, Institute of Pathology, Eppendorf University Hospital, Hamburg, Germany, is kindly appreciated.
Footnotes
- Received August 19, 2009.
- Revision received April 19, 2010.
- Accepted April 21, 2010.
- Copyright© 2010 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved
