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Journal articles on the topic 'Familial multiple trichoepitheliomas'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

N., Priyadharshini, Harini Irri, and Sathyanarayanan R. "Multiple familial trichoepitheliomas: a case report." International Journal of Research in Dermatology 7, no. 3 (2021): 487. http://dx.doi.org/10.18203/issn.2455-4529.intjresdermatol20211719.

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<p class="abstract">Trichoepithelioma is a rare benign adnexal tumor that differentiates towards the folliculo-sebaceous-apocrine unit (trichoblast). It may present as solitary non-familial lesion or multiple lesions as a part of autosomal dominant inherited syndrome known as multiple familial Trichoepithelioma. Multiple familial trichoepithelioma is a relatively rare, disfiguring, benign adnexal neoplasm diagnosed by centrofacial distribution of papules and nodules, positive family history, related histopathological findings and can rarely undergo malignant transformation. Treatment is

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2

Tiodorović, Danica, and Miljan Krstić. "Clinical, Histological and Dermoscopic Findings in Familial Cylindromatosis: a Report of Two Cases." Serbian Journal of Dermatology and Venereology 7, no. 2 (2015): 75–82. http://dx.doi.org/10.1515/sjdv-2015-0008.

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Abstract Cylindromas are benign appendage tumors mainly found on the scalp, but they can occur on any hair-bearing skin. Mutations in the cylindromatosis (CYLD) gene, a tumor suppressor gene located on chromosome 16q12–13, are responsible for multiple cylindromas, which are usually inherited in an autosomal dominant way, as in familial cylindromatosis and Brooke-Spiegler syndrome. The latter is characterized by the presence of multiple cylindromas, multiple trichoepitheliomas and spiradenomas. Based on genetic studies and the identification of heterozygous mutations in the same CYLD gene in fa

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3

Clarke, Jennie, Michael Ioffreda, and Klaus F. Helm. "Multiple Familial Trichoepitheliomas." American Journal of Dermatopathology 24, no. 5 (2002): 402–5. http://dx.doi.org/10.1097/00000372-200210000-00005.

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4

Rao Venkata Mahipathy, Surya Rao, Narayanamurthy Sundaramurthy, Vimal Chander Rajamanohar, Alagar Raja Durairaj, and Manimaran Ramachandran. "Giant solitary trichoepithelioma masquerading as basal cell carcinoma." International Surgery Journal 5, no. 7 (2018): 2649. http://dx.doi.org/10.18203/2349-2902.isj20182790.

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Trichoepithelioma is a rare benign adnexal tumour which can be of solitary non-familial type or multiple familial trichoepitheliomas. Here authors describe a middle-aged patient who presented with a swelling of the left nasolabial region diagnosed clinically as a basal cell carcinoma but proved to be a giant solitary trichoepithelioma (GST) following histopathological examination. This case is presented due to the rarity and the difficulty encountered in diagnosis of the case.

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5

Amaaoune, Fatima, Wassima Zidane, Mohamed Aksim, Maryem Aboudourib, Ouafa Hocar, and Said Amal. "Multiple non-familial trichoepitheliomas: A rare case and a review of the literature." Our Dermatology Online 14, no. 3 (2023): 307–10. http://dx.doi.org/10.7241/ourd.20233.17.

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Trichoepitheliomas are benign tumors of follicular origin often appearing in childhood or early adolescence. They present as small, firm papulonodular lesions of normal skin color or translucent. The lesions gradually increase in size and then stabilize. They sit electively on the face, mainly on the nasolabial folds, forehead, chin, and cheeks, and sometimes on the scalp and neck. Trichoepitheliomas may be divided into three subgroups: multiple familial trichoepitheliomas, solitary non-hereditary trichoepitheliomas, and desmoplastic trichoepitheliomas. Non-familial multiple trichoepitheliomas

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6

Shapiro, P. E. "Familial multiple desmoplastic trichoepitheliomas." Archives of Dermatology 127, no. 1 (1991): 83–87. http://dx.doi.org/10.1001/archderm.127.1.83.

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7

Shapiro, Philip E. "Familial Multiple Desmoplastic Trichoepitheliomas." Archives of Dermatology 127, no. 1 (1991): 83. http://dx.doi.org/10.1001/archderm.1991.01680010093015.

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8

Amaaoune, F., W. Zidane, M. Akssim, M. Aboudourib, O. Hocar, and S. Amal. "Multiple Nonfamilial Trichoepitheliomas: A Rare Case with Review of the Literature." Scholars Journal of Medical Case Reports 11, no. 05 (2023): 801–4. http://dx.doi.org/10.36347/sjmcr.2023.v11i05.012.

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Trichoepitheliomas are benign tumors of follicular origin and often appear in childhood or early adolescence. They present as small, firm papulonodular lesions of normal skin color or translucent. The lesions gradually increase in size and then stabilize. They sit electively on the face, mainly in the nasolabial folds, on the forehead, chin, and cheeks, and sometimes on the scalp and neck. Trichoepitheliomas can be divided into three subgroups: multiple familial Trichoepitheliomas, solitary non-hereditary Trichoepitheliomas, and desmoplastic Trichoepitheliomas. Nonfamilial multiple trichoepith

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9

Capusan, Tania M., Lucero Noguera‐Morel, Elena Bueno‐Martínez, et al. "Multiple familial trichoepitheliomas: Ultrasonographic findings." Skin Research and Technology 26, no. 1 (2019): 137–39. http://dx.doi.org/10.1111/srt.12746.

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10

Sood, Samriti, Mudita Gupta, Reena Kumari Sharma, and Manju Rao. "Multiple Non- Familial Trichoepitheliomas in a NineYear Child." Nepal Journal of Dermatology, Venereology & Leprology 17, no. 1 (2019): 76–78. http://dx.doi.org/10.3126/njdvl.v17i1.21119.

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Trichoepitheliomas are rare benign tumours of poorly differentiated trichogenic origin. They present as translucent lesions most commonly on centrofacial regions. Solitary lesions are seen in sporadic cases while multiple lesions are inherited in autosomal dominant pattern. We present a 9 year old child with multiple trichoepitheliomas at classical sites with none of the other family members involved.

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11

Gaydina, Tatiana A., Anton S. Dvornikov, Polina A. Skripkina, Olga I. Patsap, and Anastasiia A. Buianova. "Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas." Russian Journal of Skin and Venereal Diseases 25, no. 6 (2023): 5–16. http://dx.doi.org/10.17816/dv112260.

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BrookeSpiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance. It is clinically manifested by the development of multiple neoplasms of skin appendages such as spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Several phenotypic variants with mutations in gene CYLD have been described in the scientific literature. They are classic BrookeSpiegler syndrome; multiple familial trichoepithelioma syndrome (multiple trichoepitheliomas without cylindromas,

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12

Dissanayaka, D. W. V. N., D. K. B. Dassanayaka, and P. R. Jayasooriya. "Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules." Case Reports in Dentistry 2020 (September 9, 2020): 1–6. http://dx.doi.org/10.1155/2020/5648647.

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Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious pathological outcomes, strategies followed in the diagnosis including histopathological evaluation ai

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13

Parren, L. J. M. T., K. Munte, V. Winnepenninckx, et al. "Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma." Clinical and Experimental Dermatology 41, no. 6 (2016): 682–84. http://dx.doi.org/10.1111/ced.12856.

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14

Yadav, Savita, Sanjay Singh, Prateek Sondhi, and Deepika Yadav. "Multiple familial trichoepitheliomas presenting as leonine facies." Indian Dermatology Online Journal 8, no. 5 (2017): 358. http://dx.doi.org/10.4103/idoj.idoj_67_17.

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15

Karimzadeh, Amin, MohammadAli Mapar, Nastaran Ranjbari, Nasim Afshar, and Iman Karimzadeh. "Severely disfiguring multiple familial trichoepitheliomas with basal cell carcinoma." Indian Journal of Dermatology, Venereology, and Leprology 80, no. 4 (2014): 349. http://dx.doi.org/10.4103/0378-6323.136924.

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16

Ganguly, Satyaki, KrantiC Jaykar, Rajesh Kumar, Niyaz Ahmed, and PK Banerjee. "Multiple familial trichoepitheliomas in association with squamous cell carcinoma." Indian Dermatology Online Journal 3, no. 2 (2012): 151. http://dx.doi.org/10.4103/2229-5178.96726.

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17

Dubois, A., T. Mestre, T. Oliphant, A. Husain, and N. Rajan. "Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association." Acta Dermato Venereologica 98, no. 9 (2018): 910–11. http://dx.doi.org/10.2340/00015555-2988.

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18

van der Putte, Sebastian C. J. "The Pathogenesis of Familial Multiple Cylindromas, Trichoepitheliomas, Milia, and Spiradenomas." American Journal of Dermatopathology 17, no. 3 (1995): 271–80. http://dx.doi.org/10.1097/00000372-199506000-00010.

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19

Monteiro, Ana F., Francisco Saraiva Gil, Margarida Rato, Tomás Osório, and Ermelindo Tavares. "An extremely rare association of multiple familial trichoepitheliomas and hereditary multiple osteochondromas." International Journal of Dermatology 57, no. 12 (2018): e157-e159. http://dx.doi.org/10.1111/ijd.14251.

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20

Dr., DS Gupta, Saubhagya S. Agrawal Dr., Aashita jain Dr., Shilpi Shrivastava Dr., Nakul Chaudhary Dr., and Deepika Saini Dr. "A Rare Case of Trichoepithelioma on Unusual Location." A Rare Case of Trichoepithelioma on Unusual Location 8, no. 11 (2023): 3. https://doi.org/10.5281/zenodo.10212719.

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Purpose: Trichoepithelioma is a very rare benign tumor of the skin. Trichoepitheliomas originate in hair follicles and occur in the head and neck. It is found on the scalp, nose, and forehead, but very rarely on the hairless part of the upper lip. Therefore, removal of trichoepithelioma was performed to improve facial aesthetics, which was the patient's primary concern.Material& methods/ Case description: An adult male patient reported to the department with the solitary nodular lesion on the non-hair bearing area of left upper lip.Result: Post-op after 3 months there was no scar formation

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21

Tu, Joanna H., and Joyce M. C. Teng. "Use of topical sirolimus in the management of multiple familial trichoepitheliomas." Dermatologic Therapy 30, no. 2 (2017): e12458. http://dx.doi.org/10.1111/dth.12458.

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22

Leventer, Mihaela, Casandra Coltoiu, Alexandra Zota, Tiberiu Tebeica, Carmen Lisievici, and Alina Martinescu. "Observations on Four Cases of Brooke–Spiegler Syndrome." Reports—Medical Cases, Images, and Videos 3, no. 4 (2020): 28. http://dx.doi.org/10.3390/reports3040028.

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Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylind

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23

Fisher, Galen H., Joan Mones, Melissa Gill, Julide Tok Celebi, and Roy G. Geronemus. "Mohs Surgical Extirpation of a Basal Cell Carcinoma in a Patient with Familial Multiple Trichoepitheliomas." Dermatologic Surgery 31, no. 11 (2005): 1458–61. http://dx.doi.org/10.2310/6350.2005.31218.

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24

Fisher, Galen H., Joan Mones, Melissa Gill, Julide Tok Celebi, and Roy G. Geronemus. "Mohs Surgical Extirpation of a Basal Cell Carcinoma in a Patient with Familial Multiple Trichoepitheliomas." Dermatologic Surgery 31, no. 11 (2005): 1458–61. http://dx.doi.org/10.1097/00042728-200511000-00018.

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25

Baur, Vera, Thomas Papadopoulos, Dmitry V. Kazakov, et al. "A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib." Virchows Archiv 473, no. 2 (2018): 241–46. http://dx.doi.org/10.1007/s00428-018-2397-y.

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26

Kazakov, Dmitry V., Tomas Vanecek, Bernhard Zelger, et al. "Multiple (Familial) Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including CYLD and PTCH Gene Analysis, of a Series of 16 Patients." American Journal of Dermatopathology 33, no. 3 (2011): 251–65. http://dx.doi.org/10.1097/dad.0b013e3181f7d373.

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27

&NA;. "Multiple (Familial) Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including CYLD and PTCH Gene Analysis, of a Series of 16 Patients: Erratum." American Journal of Dermatopathology 33, no. 8 (2011): 874. http://dx.doi.org/10.1097/dad.0b013e31823befec.

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28

Oyama, Noritaka, Sayuri Okamura, and Minoru Hasegawa. "The first case report of multiple familial trichoepitheliomas responding successfully to topical benzoyl peroxide: A possible therapeutic action underlying structural turnover and antiinflammation." Indian Journal of Dermatology 67, no. 1 (2022): 67. http://dx.doi.org/10.4103/ijd.ijd_1136_20.

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29

Babbita, S., R. G. Sharada, C. R. V. Narasimhalu, and E. Muthuvel. "Multiple Trichoepithelioma." Biomedicine 40, no. 3 (2020): 399–401. http://dx.doi.org/10.51248/.v40i3.40.

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Multiple non-familial Trichoepithelioma is a rare benign adnexal tumour that originates from pilosebaceous follicle. The incidence is predominantly at puberty or early part of childhood. The common sites of occurance of trichoepithelioma are upper lip, forehead, scalp and nose. Trichoepithelioma in young women may lead to cosmetic disfigurement. We report a case of multiple non-familial trichoepithelioma who presented with complaints of multiple skin coloured raised lesions on her face since the age of 15 years. Keywords: Benign adnexal tumour; horn cyst; multiple non-familial trichoepit

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30

Laishram, Sushma, and Piyush Yadav. "Multiple familial trichoepithelioma." Cosmoderma 2 (September 5, 2022): 68. http://dx.doi.org/10.25259/csdm_74_2022.

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31

Monteiro, Ana Filipe, Margarida Rato, Pedro Luís, and Ermelindo Tavares. "Multiple Familial Trichoepithelioma." Acta Médica Portuguesa 31, no. 3 (2018): 180. http://dx.doi.org/10.20344/amp.10383.

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32

Durry, Meilany, Anggreiny Iwisara, Fera Mawu, and Sthefanie Gaghana. "Trikoepitelioma Multipel Familial: Laporan Kasus." e-CliniC 11, no. 3 (2023): 352–55. http://dx.doi.org/10.35790/ecl.v11i3.44627.

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Abstract: Trichoepithelioma is a benign tumor of folliculosebaceous-apocrine germ cell origin. There are three clinical variants of trichoepithelioma, as follows: solitary, multiple, and desmoplastic. The clinical features of trichoepithelioma are skin-colored papules up to 0.5 cm in size. with predilection areas on the nose, upper lip, and cheeks. The specific variant of familial multiple trichoepithelioma is inherited in an autosomal-dominant type and usually occurs in childhood and puberty. We reported a 36-year-old woman with complaints of skin-colored papules on the face and neck. There w

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33

Fisher, Galen H. "Treatment of Multiple Familial Trichoepitheliomas With a Combination of Aspirin and a Neutralizing Antibody to Tumor Necrosis Factor α: A Case Report and Hypothesis of Mechanism". Archives of Dermatology 142, № 6 (2006): 781. http://dx.doi.org/10.1001/archderm.142.6.782.

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34

Mathur, M., and SK Kedia. "Multiple familial trichoepithelioma: A case report." Journal of College of Medical Sciences-Nepal 6, no. 4 (2012): 64–68. http://dx.doi.org/10.3126/jcmsn.v6i4.6731.

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Trichoepithelioma are benign epidermal appendageal tumour with follicular differentiation. Tumor has been categorized into solitary, multiple and desmoplastic types. The multiple familial trichoepithelioma is autosomal dominant inheritance and rarely seen. Journal of College of Medical Sciences-Nepal,2011,Vol-6,No-4, 64-68 DOI: http://dx.doi.org/10.3126/jcmsn.v6i4.6731

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35

Tantcheva-Poór, Iliana, Tomas Vanecek, Massimo C. R. Lurati, et al. "Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation." Dermatology 232, no. 1 (2015): 30–37. http://dx.doi.org/10.1159/000437303.

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36

Oranje, AP, D. Halley, JC den Hollander, et al. "Multiple familial trichoepithelioma and familial cylindroma: one cause!" Journal of the European Academy of Dermatology and Venereology 22, no. 11 (2008): 1395–96. http://dx.doi.org/10.1111/j.1468-3083.2008.02648.x.

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37

Pfaltz, M., and U. W. Schnyder. "Banded structures in multiple familial trichoepithelioma." Acta Dermato-Venereologica 70, no. 2 (1990): 162–64. http://dx.doi.org/10.2340/0001555570162164.

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A case of multiple familial trichoepithelioma was studied by electron microscopy. Tumour cells showed a dilated, rough endoplasmic reticulum (rER), in which banded, electron-dense structures measuring approximately 50 nm in width were found. Some of these banded structures were arranged parallel to each other with an interval of 250 nm.

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38

Kazakov, Dmitry V., Tomas Vanecek, Jana Nemcova, et al. "Spectrum of Tumors With Follicular Differentiation in a Patient With the Clinical Phenotype of Multiple Familial Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including Analysis of the CYLD and PTCH Genes." American Journal of Dermatopathology 31, no. 8 (2009): 819–27. http://dx.doi.org/10.1097/dad.0b013e3181a70eef.

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39

Bakry, OlaA, Iman Seleit, MoshiraM Abdelwahed, RaniaA Hassan, and RehabM Samaka. "Multiple familial trichoepithelioma with malignant transformation." Indian Journal of Dermatology 58, no. 5 (2013): 409. http://dx.doi.org/10.4103/0019-5154.117348.

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40

Rambhia, KinjalD, BhagyashreeB Supekar, SuyashSingh Tomar, and RP Singh. "Multiple familial trichoepithelioma with varied malignancies." Indian Journal of Dermatology 66, no. 2 (2021): 226. http://dx.doi.org/10.4103/ijd.ijd_647_18.

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41

Bajaj, Anubha. "The Follicular Benignancy- Desmoplastic Trichoepithelioma." Journal of Clinical and Diagnostic Pathology 1, no. 2 (2020): 9–16. http://dx.doi.org/10.14302/issn.2689-5773.jcdp-20-3218.

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Trichoepithelioma is a benign, cutaneous neoplasm originating from the hair follicle and is categorized into singular trichoepithelioma, multiple trichoepithelioma and desmoplastic trichoepithelioma wherein desmoplastic trichoepithelioma is cogitated as an exceptional, cutaneous adnexal tumour. Desmoplastic trichoepithelioma was initially scripted by Hartzell in 1904 wherein the lesion was described as a benign, cystic epithelioma. Desmoplastic trichoepithelioma can be additionally nomenclated as epithelioma adenoides cysticum, morphea - like epithelioma or sclerosing epithelial hamartoma 1. F

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42

Tunçel, Deniz, Banu Yılmaz Özgüven, Ahu Gülçin Sarı, Ayşin Karasoy Yeşilada, Fevziye Kabukçuoğlu, and Kamile Gülçin Eken. "Non-familial Multiple Trichoepithelioma: A Case Report." Meandros Medical and Dental Journal 21, no. 2 (2020): 155–58. http://dx.doi.org/10.4274/meandros.galenos.2015.1862.

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43

Kirby, Joslyn S., Sara Marian Siebert Lucking, and Elizabeth M. Billingsley. "Trichoblastic Carcinoma Associated with Multiple Familial Trichoepithelioma." Dermatologic Surgery 38, no. 12 (2012): 2018–21. http://dx.doi.org/10.1111/j.1524-4725.2012.02537.x.

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44

Young, AL, R. Kellermayer, R. Szigeti, A. Tészás, S. Azmi, and JT Celebi. "CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes." Clinical Genetics 70, no. 3 (2006): 246–49. http://dx.doi.org/10.1111/j.1399-0004.2006.00667.x.

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45

Grossmann, Petr, Tomas Vanecek, Petr Steiner, et al. "Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke–Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens." American Journal of Dermatopathology 35, no. 1 (2013): 34–44. http://dx.doi.org/10.1097/dad.0b013e31824e7658.

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46

Feng, Song, Huifu Ma, Wenjun Pei, and Feng Jin. "Twelve years' observation of multiple familial trichoepithelioma with squamous carcinoma." Indian Journal of Dermatology 61, no. 3 (2016): 348. http://dx.doi.org/10.4103/0019-5154.182464.

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47

Harada, Hiroshi, Ken Hashimoto, and Minoru S. H. Ko. "The Gene for Multiple Familial Trichoepithelioma Maps to Chromosome 9p21." Journal of Investigative Dermatology 107, no. 1 (1996): 41–43. http://dx.doi.org/10.1111/1523-1747.ep12297860.

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48

Zheng, Guangyong, Landian Hu, Wei Huang, et al. "CYLD mutation causes multiple familial trichoepithelioma in three Chinese families." Human Mutation 23, no. 4 (2004): 400. http://dx.doi.org/10.1002/humu.9231.

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49

Jiménez Antón, Alicia, David Jiménez Gallo, José Francisco Millán Cayetano, Gonzalo Gallo Pineda, and Mario Linares Barrios. "Fibroblast Growth Factor Receptor 2 Overexpression in Multiple Familial Trichoepithelioma." American Journal of Dermatopathology 46, no. 1 (2023): 69. http://dx.doi.org/10.1097/dad.0000000000002569.

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50

Lee, KH, JE Kim, BK Cho, YC Kim, and CJ Park. "Malignant Transformation of Multiple Familial Trichoepithelioma: Case Report and Literature Review." Acta Dermato-Venereologica 88, no. 1 (2008): 43–46. http://dx.doi.org/10.2340/00015555-0322.

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