Abstract This case report describes the diagnosis andtherapy of a pat - PDF document

Abstract. This case report describes the diagnosis andtherapy of a patient with a 40-year history of multiplepotato-like tumours growing in the head and neck region.The tumour proved to be a cylindroma, associated withcalvarian defects. Further facial tumours were diagnosed astrichoepitheliomas. This association of findings waspathognomonic for Brooke-Spieglers syndrome. Completework-up of the resection specimen excluded any malignant 1793 Correspondence to: ProfessorDr. R. E. Friedrich, Oral andMaxillofacial Surgery, Eppendorf University Hospital, Martinist. 52,D-20246 Hamburg, Germany. Tel.: +49 40428033259, Fax: +4040428038120, e-mail: rfriedrich@uke.uni-hamburg.deKey Words:Dermal cylindroma, skull defects, Brooke-Spiegler Dermal Cylindroma of the Scalp (Turban Tumour)and Subjacent Calvarian DefectsDepartment of Oral and Maxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Germany 0250-7005/2010 $2.00+.40 Therapy. The scalp was completely excised under generalanaesthesia so that the tumour could be resected. Theresection slices were 28 cm ×18 cm ×6 cm and 30 cm ×20cm ×6 cm, respectively. The maximum diameter of singlenodules was 8 cm. In this first operation, the bone was leftbiology prior to intracranial procedures. The defect was 1794 Right lateral aspect of the patient on her first attendance atthe age of 71 years. Coronal magnetic resonance imaging of the head. Large cysticareas are revealed inside the turban tumour. In the area of bonedestruction the tumour cannot be differentiated clearly from the brain. Right lateral aspect of the patient on at the age of 75 years.Note the enlargement of the tumour masses and the displacement of theright pinna due to the pressure of the tumour. The computed tomography of the skull reveals a sharplydemarcated osseous defect of the right parieto-occipital region. temporarily covered. Histopathological work-up of the wholespecimen revealed a cylindroma in all sites and excludedmalignant transformation. A second operation was carrieddefects. Two craniotomies were performed to resect theresidual tumour. Both the intracavitary tumour and adjacentbone were e

xcorporated. The largest defect was about 3 cmin maximum diameter. The dura was not invaded by thetumour and remaineduninjured during the surgicalmanipulations. Multiple split-skin grafts were harvested tocover the calvarium completely. Healing of the wounds andrecovery of the patient were both uneventful (Figure 6). Thesame differentiation of cylindroma was found in the bonydefects as in the large resection specimens (Figure 7). Theperiosteum was not infiltrated by the tumour. The tumoursof the pinna caused mechanical impairment of hearing. Afterre-epithelialisation of the scalp, a third operation wasperformed to reduce the auricular cylindromas, especially tocontour the auditory meatus. Additionally, the cylindromasof the chin and the nasolabial tumours were excised, thelatter proving to be trichoepitheliomas. Thirty-six monthsafter initial surgery, the patient was doing well with no signsdeveloping in her neck. 1795 Angiographic radiogram depicting the feeding arteries ofthe tumour. The arteries originate from branches of the externalcarotid artery. Postoperative lateral aspect of the patient. Note the parieto-occipital calvarian defect. Biopsy of the resection specimen. The adenomateous tumour issegregated by thick septae, typical ofa cylindroma. Hematoxylin-eosin,primary magnification ×120. DiscussionA patient with a turban-like tumour was first reported byAncell (17). The clinicopathological features of cylindromawere described in detail by Spiegler (3) and Brooke (5). Thecylindroma of the skin arises from eccrine or apocrine glands(18). The tumour forms thick layers of collagen-richextracellular matrix (11, 19, 20).The medical history of patients with cylindroma usuallycovers years or even decades of their life. Women areaffected predominantly, with the male-to-female ratioranging from 1:3 to 1:9 (3, 9). A cylindroma may occur ineither solitary or multiple lesion form. The solitary type isis often a predominantly inherited disease (12). Thesetumours can vary in size from papules to large dome-shapednodules. The capillitium is the most frequently affected sitein the head and neck area (7-9, 17). Other anatomic

alregions of the face and neck are occasionally covered bycylindromas (16) and these tumours can also be found in theskin of the trunk, arms and legs (4, 21). The diameter ofthese tumours rarely exceeds 4-6 cm(22).Brooke-Fordyce trichoepitheliomas are frequently foundin patients with dermal cylindromas (5). The term Brooke-SpieglerŽ syndrome reflects this close association ofcylindroma and trichoepithelioma as pathognomonic featuresof this syndrome. Further studies revealed the evidence of asingle genetic entity for these phenotypes (23), which wasrecently linked to having a molecular basis (24, 25). In thecurrent case, there was no information regarding familyhistory (24); however, there was evidence oftrichoepitheliomas of the nasolabial fold (12). Therefore, thereported case fulfilled the main diagnostic criteria of aBrooke-Spiegler-syndrome.The macroscopic differential diagnosis of a cylindromaincludes a variety of skin tumours, such as trichoepithelioma,hyperplasia (26) or neurofibromatosis (1, 27). The tentativediagnosis of this benign tumour, based on physicalexamination, may not be hampered in cases with anexcessive growth resembling a turban. However, malignanttransformation of a cylindroma has to be considered (28).Thus, thorough investigation of patients with turban tumouris imperative. The penetration of bone by local extension ina case of cylindroma contains a reference to a malignantThe extension of the tumour is best depicted withmagnetic resonance or computed tomography. Angiographymay disclose hypertrophied branches of the external carotidTreatment consists of surgical excision (7, 29-33). Inextensive lesions, resurfacing with split skin-grafts is themethod 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 withreconfiguration of the auricle and outer meatus hasTo the Authors best knowledge, there has been no priorreport of a cylindroma of the head and neck region (turbantumour) where evidence was presented for multiple lesionsof the calvarium and definitive excl

usion of malignanttransformation proved during a follow-up period of 36AcknowledgementsThe expert histological diagnosis of the resection specimen providedby ProfessorDr. mult. K. Donath, Institute of Pathology, EppendorfUniversity Hospital, Hamburg, Germany, is kindly appreciated.References1Rubin MG and Mitchell AJ: Generalized cutaneous cylindromatosis.2De Backer A, Vanden Houte K, Duinslaeger L and Wylock P:Familial dermal eccrine cylindroma (turban tumor) - a report oftwo cases with emphasis on the surgical approach. Eur J PlastSurg : 113-116, 1986.3Spiegler E: Ueber Endotheliome der Haut. Arch Dermatol Syph4Batstone JHF: Turban tumour. Br J Surg 5Brooke HG: Epithelioma adenoides cysticum. Br J Dermatol 6Blandy LJ, Gammie WFP and Stovin PGI: Turban tumours inbrother and sister. Br J Surg 7Fabian RL and Shugar MA: Florid dermal cylindroma (turbantumor). Head Neck Surg 8Given K, Pickrelli K and Smith D: Dermal cylindroma (turbantumor). Plast Reconstr Surg 9Harper PS: Turban tumors (Cylindromatosis). : Bergsma D(ed.). The Third Conference on the Clinical Delineation of BirthDefects, part XII: Skin, Hair and Nails. Baltimore, Williams andWilkins, pp. 338-341, 1971.10Alawi MH, Hobby JAE and Lesna M: Familial dermalcylindroma with involvement of the parotid gland. Br J PlastSurg 11van Balkom IDC and Hennekam RCM: Dermal eccrinecylindromatosis. J Med Genet 12Burrows NR, Russell Jones R and Smith NP: Theclinicopathological features of familial cylindromas andtrichoepitheliomas (Brooke-Spiegler syndrome): a report of twofamilies. Clin Exp Dermatol 13Grimmer H: Erkrankungen des äußeren weiblichen Genitale.Adenextumoren. Zylindrom (Spiegler´scher Tumor). Z Haut14Lyon JB and Rouillard LM: Malignant degeneration of turbantumor of the scalp. Trans St Johns Hosp Dermatol Soc 15Luger A: Das Zylindrom der Haut und seine maligneDegeneration. Arch Dermatol Syph (Berl) 1796 16Wolf BA, Gluckman JL and Wirman JA: Benign dermalcylindroma of the external auditory canal: a clinicopathologicalreport. Am J Otolaryngol 17Ancell H: History of a remarkable case of tumours, developedon the head and face, accompanied with a similar disease in t

heabdomen. Med Chir Trans R Med Chir Soc Lond 18Al-Qattan MM: Turban tumour: eccrine or apocrine in origin(letter). Br J Plast Surg 19Bruckner-Tuderman L, Pfaltz M and Schnyder UW: Cylindromaoverexpresses collagen VII, the major anchoring fibril protein. J Invest Dermatol 20Pfaltz M, Bruckner-Tuderman L and Schnyder UW: Type VIIcollagen is a component of cylindroma basement membranezone. J Cutan Pathol 21Guzzo C and Johnson B: Unusual abdominal location of adermal cylindroma. Cutis 22Korting GW and Denk R (Hrsg.): DermatologischeDifferentialdiagnose. Schattauer, Stuttgart, pp. 667-668, 1974.23Welch JP, Wells RS and Kerr CB: Ancell-Spiegler cylindromas(turban tumors) and Brooke-Fordyce trichoepitheliomas:evidence for a single gene entity. J Med Genet 24Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y,Easton DF, Burn J and Stratton MR: Familial cylindromatosisq13: evidence for its role as a tumour suppressor gene. Nat25Biggs PJ, Chapman P, Lakhani SR, Burn J and Stratton MR: Thecylindromatosis gene (CYLD1) on chromosome 16q may be theonly tumour suppressor gene involved in the development ofcylindromas. Oncogene 26Vázquez Botet M and Sánchez JL: Angiolymphoid hyperplasiawith eosinophilia: report of a case and review of the literature. J Dermatol Surg Oncol 27Baden HP: Cylindromas simulating neurofibromatosis. N Engl28Lin PY, Fatteh SM and Lloyd KM: Malignant transformation ina solitary dermal cylindroma. Arch Pathol Lab Med 29Freedman AM and Woods JE: Total scalp excision and auricularresurfacing for dermal cylindroma (turban tumor). Ann PlastSurg 30Goldman B: Total excision of the scalp and portions of the face;restoration by skin grafting: the surgical management of massivecylindroma of the scalp and face. Ann Surg 31Irwin LR, Bainbridge LC, Reid CA, Piggot TA and Brown HG:Dermal eccrine cylindroma (turban tumor). Br J Plast Surg 32Sherman JE, Hoffman S and Goulian D: Dermal cylindroma:surgical approach. Plast Reconstr Surg 33Sharma HS, Meorkamal MZ, Zainol DCP and Dharap MS:Eccrine cylindroma of the ear canal - report of a case. J LaryngolReceived August 19, 2009Revised April 19, 2010Accepted April 21, 2010