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Advances in dermatology and venereology Acta Dermato-Venereologica
Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas : A Recurrent Association
Anna DUBOIS 1 # , Tiago MESTRE 1 # , Tom OLIPHANT 1 , Akhtar HUSAIN 2 and Neil RAJAN 1 , 3 *
1
Department of Dermatology , 2 Department of Histopathology , Royal Victoria Infirmary , and 3 Institute of Genetic Medicine , University of Newcastle upon Tyne , NE1 3BZ Newcastle upon Tyne , UK . * E-mail : neil . rajan @ ncl . ac . uk
#
These authors contributed equally to this work . Accepted Jun 5 , 2018 ; Epub ahead of print Jun 8 , 2018
Cutaneous squamous cell carcinoma ( cSCC ) is one of the leading causes of skin cancer mortality ( 1 ). The recognition of , and stratification by , histological subtype is important in the prognostication of outcome . Follicular , or infundibulocystic , cSCC is a recently described subtype which is thought to arise from follicular cells and is estimated to account for approximately 1.3 % of cSCC ( 2 ). Fewer than 90 cases have been reported , and this poorly understood form may be more common than previously thought ( 3 ). Hence the development of follicular cSCC in rare genetic conditions such as CYLD cutaneous syndrome ( CCS ) is informative and provides insights into tumour pathogenesis . Multiple familial trichoepitheliomas ( MFT ) is one of 3 phenotypes reported in CCS , and is associated with rare , germline mutations in CYLD ( 4 ). In this report we present a case of a follicular cSCC in a patient with the MFT phenotype .
CASE REPORT
A 56-year-old woman presented with an ulcerated tumour on the dorsum of her left-hand ( Fig . 1a ). It had been increasing in size over the preceeding 4 months and was reported not to have arisen from a preexisting skin lesion . She had first presented in her teens with multiple facial papules that , after excision from her melolabial skin , were confirmed to be trichoepitheliomas . At the age of 53 , a benign vulval cylindroma was excised . She had a history of significant UV exposure , having spent 4 months per year in Turkey for the past 10 years . She had two children , who both developed MFT in their teens , one of whom had been confirmed to have pathogenic mutation in CYLD ( c . 1112C > A ). Skin examination of the patient revealed freckling and subtle poikiloderma consistent with her history of UV exposure . The tumour on the dorsum of her hand was a pink ulcerated nodule measuring 20 × 26 mm ( Fig . 1A ). The skin on her face had numerous , skin-coloured papules consistent with trichoepithelioma . No lesions were otherwise noted on the arms or torso . A punch biopsy of the nodule on the hand revealed features compatible with either trichofolliculoma or adnexal basal cell carcinoma . Clinicopathological correlation raised the suspicion of trichoblastic carcinoma or squamous cell carcinoma . As trichoblastic carcinoma has been reported to metastasize ( 5 ), a staging workup , including computerized tomography ( CT ) of the chest and abdomen was performed , and did not find evidence of systemic metastasis .
The tumour was then excised using Mohs micrographic surgery ( MMS ) and took 4 stages to clear , leaving a defect of 52 by 52 mm . The debulk specimen showed poorly differentiated follicular cSCC , which was 6 mm thick and had an infiltrative growth pattern ( Fig . 1B ). Positive Mohs stages , however , showed basaloid nests of immature palisading tumour cells in the dermis , consistent with trichofolliculoma ( Fig . 1C ). BerEp4 staining was negative in the debulk and positive in the Mohs stages ( Fig . 1D ). There was no evidence of recurrence or distant metastasis during a 3-year follow-up period .
Fig . 1 . ( a ) Follicular squamous cell carcinoma ( SCC ). Ulcerated nodule measuring 20 x 26 mm on the left-hand dorsum growing faster and larger than her other lesions . ( b ) Poorly differentiated follicular cutaneous SCC on Mohs debulk specimen . ( c ) H + E of positive Mohs stage demonstrating features consistent with trichofolliculoma . ( d ) BerEp4 immunostaining of positive Mohs stage demonstrating increased expression at the infiltrative margin . ( H + E : original magnification 10x ; inset : 40x ).
DISCUSSION
Follicular cSCC is a relatively uncommon subtype of cSCC that has only been recently recognised ( 3 ), and hence our finding of this tumour type on the genetic background of a germline CYLD mutation is of interest . The genetic mechanism underpinning this link is not yet clear . CYLD loss has been reported in sporadic human cSCC ( 6 ), and has been shown to increase cSCC invasion in mice . It is of interest that recently in oral SCC , CYLD loss is seen as driving factor that facilitates invasion , via upregula- doi : 10.2340 / 00015555-2988 Acta Derm Venereol 2018 ; 98 : 910 – 911
This is an open access article under the CC BY-NC license . www . medicaljournals . se / acta Journal Compilation © 2018 Acta Dermato-Venereologica .