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    Basaloid follicular hamartoma: clinical, dermoscopic, and histopathological characteristics of case.
    Dermatol Online J 2017 May 15;23(5). Epub 2017 May 15.
    Division of Dermatology, Department of Medicine, National University Hospital, Singapore. ellie_
    Basaloid follicular hamartoma (BFH) is a rare benign adnexal tumor with variable clinical presentation. We report a case of a 64-year-old man, who presented with an incidental finding of a 3mm hyperpigmented macule on his cheek. Dermoscopy revealed a structureless blue lesion. Read More

    Epithelioma Adenoides Cysticum: A Report of Two Cases in a Family.
    Int J Trichology 2016 Oct-Dec;8(4):165-167
    Department of Pediatrics, Medical College, Calicut, Kerala, India.
    Epithelioma adenoides cysticum or multiple trichoepitheliomas are rare benign hamartomas arising from the hair germ. A 35-year-old female presented with multiple skin-colored firm papules and nodules mainly affecting the central face, scalp, and external ear canal since the age of 9 years. The lesions gradually increased with age. Read More

    GATA3 and MYB Expression in Cutaneous Adnexal Neoplasms.
    Am J Dermatopathol 2017 Apr;39(4):279-286
    *Departments of Pathology, Porto Medical School and Sao Joao Hospital, Porto, Portugal; †Departments of Pathology, William Beaumont School of Medicine, Royal Oak, MI; ‡Departments of Pathology, Duke University Medical Center, Durham, NC; and §Departments of Pathology, Harvard Medical School and Massachusetts General Hospital, Boston, MA.
    Knowledge of staining pattern of certain immunostains might be useful in the classification of cutaneous adnexal tumors that can have clinical importance. We studied GATA3 and MYB expression in archival materials of 220 adnexal tumors comprised of sebaceous carcinomas, follicular tumors, apocrine carcinoma, predominantly apocrine tumors, predominantly eccrine tumors, and others including adenoid cystic carcinomas. Nuclear GATA3 expression was seen in 70% (153/220) of cases, including sebaceous carcinoma (93%), apocrine carcinoma (93%), follicular neoplasms (100%), and predominantly apocrine neoplasms (69%), yet only 38% of predominantly eccrine neoplasms. Read More

    Trichoadenoma of Nikolowski- A Rare Tumour with Unusual Presentation Over Vulva.
    J Clin Diagn Res 2017 Jan 1;11(1):ED05-ED06. Epub 2017 Jan 1.
    Associate Professor, Department of Pathology, Shaheed Hasan Khan Mewati, Government Medical College , Nalhar, Nuh, Haryana, India .
    Trichoadenoma is a rare benign, slowly growing, cutaneous tumour of the hair follicle first described by Nikolowski in 1958. It presents as a non-specific nodule over the face or buttocks. However, unusual sites such as the neck, upper arm, thigh, shoulder, and shaft of the penis may also be affected. Read More

    Cytologic features of cutaneous follicular tumors and cysts in dogs.
    Vet Clin Pathol 2017 Mar 1;46(1):143-150. Epub 2017 Mar 1.
    Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California-Davis, California, USA.
    Background: Follicular tumors and cysts are common skin lesions in dogs. Both are distinguished based on their cellular origin (matrical, isthmus, or infundibular cells) and the type of keratin they produce. Typically, differentiation requires histopathology, as all these lesions often have similar cytologic features. Read More

    Use of topical sirolimus in the management of multiple familial trichoepitheliomas.
    Dermatol Ther 2017 Mar 30;30(2). Epub 2017 Jan 30.
    Department of Dermatology, Stanford University, Palo Alto, California.
    The management of trichoepitheliomas is challenging, especially in children. This challenge is exemplified in patients with multiple trichoepitheliomas who present with progression of lesion count and size despite treatment with current strategies, including CO2 laser and surgery. We present the novel use of topical 1% sirolimus cream in two siblings with multiple facial trichoepitheliomas; one was treated with a combination of CO2 laser ablation and topical sirolimus, and the other was treated with topical sirolimus alone. Read More

    Trichoepithelioma Arising in an Ovarian Mature Cystic Teratoma.
    Case Rep Obstet Gynecol 2016 29;2016:6829194. Epub 2016 Dec 29.
    Department of Obstetrics and Gynecology, Seirei Hamamatsu General Hospital, Shizuoka, Japan.
    Here, we report an extremely rare case of trichoepithelioma (TE)-a benign epithelial tumor originating from the outer root sheath of a hair follicle-arising in an ovarian mature cystic teratoma (MCT) with fluorodeoxyglucose-positron emission tomography (FDG-PET) findings. A 48-year-old Japanese woman presented to our hospital for her annual follow-up of adenomyosis. Ultrasonography and magnetic resonance imaging revealed a left ovarian tumor with irregular-shaped septum, which was suspicious of malignancy. Read More

    Multiple Familial Trichoepithelioma Successfully Treated With CO2 Laser and Imiquimod.
    Skinmed 2016 1;14(6):467-468. Epub 2016 Dec 1.
    Department of Dermatology, Robert Wood Johnson University Hospital, New Brunswick, NJ.
    A 33-year-old woman presented with more than 100 flesh-colored papules and nodules centrally located on the face (Figure 1). Since their first appearance at the age of 7, the lesions had increased in number and spread laterally from the nasolabial folds. She underwent surgical removal at age 10 with recurrence afterward. Read More

    Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.
    Indian J Dermatol 2016 Sep-Oct;61(5):580
    Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
    Brooke-Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor suppressor gene cylindromatosis (CYLD gene) localized on chromosome 16q12-q13. Read More

    Multiple familial trichoepithelioma: confirmation via dermoscopy.
    Dermatol Pract Concept 2016 Jul 31;6(3):51-4. Epub 2016 Jul 31.
    Department of Dermatology, Complejo Asistencial Hospital Sótero del Río, Santiago, Chile.
    Trichoepitheliomas are uncommon benign adnexal neoplasms that originate from the hair follicles. Multiple familial trichoepithelioma constitute an autosomal dominant disease characterized by the appearance of multiple flesh-colored, symmetrical papules, tumors and/or nodules in the central face and occasionally on the scalp. Although clinical diagnosis is usually straightforward in light of the family history and naked-eye examination, dermoscopy may aid in its confirmation. Read More

    Fibroepithelioma of Pinkus Revisited.
    Dermatol Ther (Heidelb) 2016 Sep 21;6(3):347-62. Epub 2016 Jun 21.
    Department of Dermatology, University of California San Diego, San Diego, CA, USA.
    Background: Fibroepithelioma of Pinkus (FeP) is considered a variant of basal cell carcinoma (BCC); however, in the past 20 years, some researchers have argued for its classification as a trichoblastoma. Recently, use of a new immunostaining marker and further dermoscopic characterization of FeP have advanced the debate about its proper classification.

    Purpose: A review of the evidence for and against classification of FeP as BCC or trichoblastoma is presented. Read More

    Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma.
    Indian J Dermatol 2016 May-Jun;61(3):348
    Department of Neurosurgery, Affiliated Hospital of Jining Medical College, Jining, Shandong, PR China.
    Long-standing trichoepithelioma lesion on scalp with 12 years follow-up. The patient was observed for 12 years, and the carcinoma recurred 3 times during 8 years after surgical excision and radiation therapy. Malignant transformation may occur in multiple familial trichoepitheliomas; Moderate radiation therapy should be given for malignant transformation patients with lower radiation dose and shorter time. Read More

    Nuclear factor XIIIa staining (clone AC-1A1 mouse monoclonal) is a sensitive and specific marker to discriminate sebaceous proliferations from other cutaneous clear cell neoplasms.
    J Cutan Pathol 2016 Aug 10;43(8):649-56. Epub 2016 Jun 10.
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Sebaceous carcinoma is a rare but serious malignancy that may be difficult to diagnose when poorly differentiated. Other epithelial tumors with clear cell change may mimic sebaceous carcinoma. Few useful or specific immunohistochemical markers for sebaceous differentiation are available. Read More

    Basal Cell Carcinoma Developing from Trichoepithelioma: Review of Three Cases.
    J Clin Diagn Res 2016 Mar 1;10(3):PD17-9. Epub 2016 Mar 1.
    Professor and HOD, Department of Pathology, ASRAMS , Eluru, Andhra Pradesh, India .
    Trichoepitheliomas (TE) are benign tumours but occasionally can undergo transformation to malignant neoplasms more commonly as Basal Cell Carcinoma (BCC). The correct diagnosis between these tumours is very important because basal cell carcinoma is locally aggressive neoplasm and requires total surgical excision with wide healthy margins while trichoepithelioma needs simple excision. We describe three patients who developed basal cell carcinoma with facial trichoepitheliomas. Read More

    A rare case of eccrine spiradenoma-treatment and management.
    Eur J Plast Surg 2016;39:143-146. Epub 2015 Jun 17.
    Department of Plastic and Reconstructive Surgery, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka India.
    A young male patient presented with multiple swellings on his chest and the nape of his neck. Physical examination revealed multiple small papulonodular swellings measuring 0.5 × 0. Read More

    Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.
    Head Neck Pathol 2016 Jun 14;10(2):125-30. Epub 2016 Mar 14.
    Department of Pathology, Faculty of Medicine in Pilsen, Charles University in Prague, Prague, Czech Republic.
    Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms most commonly spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. Multiple familial trichoepithelioma (MFT) is a phenotypic variant of the disease characterized by the development of numerous trichoepitheliomas (cribriform trichoblastoma) only. Malignant tumors arise in association with preexisting benign cutaneous neoplasms in about 5-10% of the patients . Read More

    Nonfamilial Multiple Trichoepithelioma: Few and Far Between.
    Indian J Dermatol 2016 Jan-Feb;61(1):78-80
    Department of Dermatology, Venereology, Leprosy, Pt. B.D. Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
    Trichoepithelioma is a rare benign adnexal tumor which may be of solitary nonfamilial type or multiple familial trichoepitheliomas. Here, we describe a rare presentation of nonfamilial case of trichoepithelioma in a 50-year-old female with multiple skin colored facial papules and nodules over the face, upper back, and extremities. Read More

    The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
    BMC Genet 2016 Feb 9;17:36. Epub 2016 Feb 9.
    MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.
    Background: Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The disease is associated with various mutations in the cylindromatosis (CYLD; MIM 605018) gene that are also responsible for familial cylindromatosis (FC) and Brooke-Spiegler syndrome (BSS).

    Methods: Recently we have identified a Spanish MFT1 pedigree with two affected family members (father and daughter). Read More

    Significance of androgen receptor and CD10 expression in cutaneous basal cell carcinoma and trichoepithelioma.
    Oncol Lett 2015 Dec 13;10(6):3466-3470. Epub 2015 Oct 13.
    Department of Pathology, Kafkas University, Kars 36100, Turkey.
    Differential diagnosis of trichoepithelioma (TE) and basal cell carcinoma (BCC) on the basis of clinical symptoms and laboratory investigations may be difficult in certain patients. The aim of the present study was to compare cluster of differentiation 10 (CD10) and androgen receptor (AR) expression patterns in BCC and TE, to investigate the predictive power of these proteins as markers of the two conditions. A total of 39 cases of BCC and 15 cases of TE were retrieved from the pathology department archives. Read More

    Linear trichoepithelioma on the neck of a 15-year-old girl.
    Dermatol Online J 2016 Nov 15;22(11). Epub 2016 Nov 15.
    Department of Dermatology, San Antonio Uniformed Services Health Education Consortium, San Antonio, TX.
    Trichoepitheliomas are trichogenic tumors that can have various clinical morphologies. These tumors are benign and differentiate toward the outer root sheath of the hair follicle. Solitary trichoepitheliomas arise sporadically, in contrast to multiple trichoepitheliomas, which are usually inherited as an autosomal dominant trait or as part of various genetic syndromes. Read More

    Desmoplastic trichoepithelioma: A clinicopathological study of three cases and a review of the literature.
    Oncol Lett 2015 Oct 21;10(4):2468-2476. Epub 2015 Jul 21.
    Department of Dermatology, Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, P.R. China.
    Desmoplastic trichoepithelioma (DTE) is a rare benign adnexal tumor with the characteristic features of asymptomatic, solitary, annular, indurated and centrally depressed papules or plaques, most commonly occurring in younger individuals on the face. Microscopically and clinically, DTE may be difficult to distinguish from other cutaneous adnexal neoplasms, particularly syringoma, cutaneous metastatic breast cancer, morpheaform basal cell carcinoma and microcystic adnexal carcinoma. The present study reports three cases of DTE. Read More

    GATA3 Expression in Normal Skin and in Benign and Malignant Epidermal and Cutaneous Adnexal Neoplasms.
    Am J Dermatopathol 2015 Dec;37(12):885-91
    Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA.
    Initial investigations reported GATA3 to be a sensitive and relatively specific marker for mammary and urothelial carcinomas. Recently, GATA3 expression has been described in several other epithelial tumors. However, there has been only limited investigation of GATA3 expression in cutaneous epithelial tumors. Read More

    Immunohistochemical analysis of CD146 expression in canine skin tumours.
    Histol Histopathol 2016 Apr 17;31(4):453-9. Epub 2015 Nov 17.
    Laboratory of Veterinary Pathology, Faculty of Applied Biological Sciences, Gifu University, Gifu, Japan.
    CD146, a cell adhesion molecule, is overexpressed in a variety of carcinomas, including melanoma, prostate cancer, epithelial ovarian cancer, and breast cancer. The level of expression is directly correlated with tumour progression and metastatic potential. The most commonly affected organ for both neoplastic and non-neoplastic tumours is the skin. Read More

    Solitary trichoepithelioma: clinical, dermatoscopic and histopathological findings.
    Rom J Morphol Embryol 2015 ;56(2 Suppl):827-32
    Department of Dermatology, University of Medicine and Pharmacy of Craiova, Romania;
    Unlabelled: Trichoepithelioma is part of the adnexal carcinomas. It is a benign, small tumor, usually under a centimeter in diameter, which develops in the basal cells of the hair follicle.

    Case Report: We present the case of a 30-year-old female patient, from rural area, which was hospitalized in the Clinic of Dermatology, Emergency County Hospital, Craiova, Romania, in March 2015, for the presence of a skin tumor, with round-oval shape, 0. Read More

    Trichoepithelioma and Basal Cell Carcinoma with Squamous Differentiation: Is it Causal or Coincidental?
    Indian J Dermatol 2015 Jul-Aug;60(4):394-6
    Department of Dermatology, PGIMER, Dr. RML Hospital, New Delhi, India.
    Trichoepitheliomas (TEs) are benign cutaneous tumors that occur either as solitary non-familial or multiple familial. We report a case of multiple familial trichoepithelioma (MFT) in a 55-year-old female patient and her son who came with complaints of single ulcerated mass involving the left nasolabial fold and cheek. She had multiple papules and nodules all over the face and neck since 25 years. Read More

    The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study.
    Int J Dermatol 2016 Mar 28;55(3):270-7. Epub 2015 Jul 28.
    Division of Dermatology, Department of Medicine, University of Stellenbosch and Tygerberg Academic Hospital, Cape Town, South Africa.
    Background: Trichoepithelioma (TE) is a benign adnexal neoplasm derived from basal cells in the hair follicle. Solitary TE occurs sporadically as opposed to the multiple familial variant that presents as an autosomal dominant genodermatosis. The solitary variant can be confused with basal cell carcinoma both clinically and histologically. Read More

    p40 in Conjunction With CK20 and E-Cadherin Distinguishes Primary Adnexal Neoplasms of the Skin.
    Appl Immunohistochem Mol Morphol 2016 Jul;24(6):414-21
    Institute of Pathology, University Hospital RWTH Aachen, Aachen, Germany.
    Although basal cell carcinomas (BCC) show typical histomorphologic features, they sometimes remain difficult in distinction from benign adnexal skin tumors of follicular origin like trichoepithelioma (TE) or trichoblastoma (TB). Consequently, an immunohistochemical marker panel separating described entities would be helpful in clinical routine. Thus, we stained 22 skin lesions (BCC, TE, and TB) against β-catenin, CK20, E-cadherin, p40, and p63. Read More

    Solitary Trichoepithelioma of the Eyelid: A Clinico-Pathological Correlation.
    Int J Trichology 2015 Apr-Jun;7(2):80-1
    Department of Ophthalmic Plastics Surgery, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.
    Solitary trichoepithelioma of the eyelid is a very rare tumor, which needs to be differentiated from basaloid epithelioma and basal cell carcinoma. Diagnosis is based on clinical and histopathological examination. We present a case of an eyelid trichoepithelioma presenting as a long standing nodule with associated dermatochalasis. Read More

    Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature.
    Indian J Dermatol 2015 May-Jun;60(3):280-3
    Department of Pathology, PGIMS, Rohtak, Haryana, India.
    Trichoepithelioma is a benign tumor of follicular origin that presents as small, skin-colored papules predominantly on the face. When more than one family member is affected, the disease is known as multiple familial trichoepithelioma (MFT). It is a rare autosomal dominant skin disease. Read More

    Desmoplastic Trichoepithelioma: An Infrequent Entity not to be Missed: Report of Two Cases.
    Pediatr Dermatol 2015 Sep-Oct;32(5):e208-9. Epub 2015 Jun 8.
    Department of Dermatology, Hospital Niño Jesus, Madrid, Spain.
    Desmoplastic trichoepitheliomas are rare benign tumors with follicular differentiation. They have rarely been described in children. We report two children with this uncommon condition. Read More

    Dermoscopic Findings in Trichoblastoma.
    Actas Dermosifiliogr 2015 Nov 29;106(9):e45-8. Epub 2015 May 29.
    Servicio de Dermatología, Hospital Universitario La Fe, Valencia, España.
    Trichoblastoma is a benign cutaneous neoplasm that is clinically and histologically similar to basal cell carcinoma. We report the dermoscopic features seen in 2 cases of facial trichoblastoma. One case presented with very short, delicate, scarcely branching telangiectases against a pearly white background. Read More

    [Skin morphology in congenital ichthyosis (Harlequin fetus)].
    Arkh Patol 2015 Mar-Apr;77(2):39-42
    The paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl with congenital ichthyosis (Harlequin ichthyosis (HI)). There is impaired proliferative activity, abnormalities in epidermal differentiation with abnormal CK LMW synthesis, and those in the differentiation of the skin appendages. There are also pronounced sclerotic changes with a predominance of reticulin fibers, derma, and its vessels. Read More

    Comparative analysis of cytokeratin 15, TDAG51, cytokeratin 20 and androgen receptor in sclerosing adnexal neoplasms and variants of basal cell carcinoma.
    J Cutan Pathol 2015 Nov 3;42(11):824-31. Epub 2015 Jul 3.
    Departments of Dermatology and Pathology, University of California, San Francisco, CA, USA.
    Background: Desmoplastic trichoepithelioma (DTE), morpheaform basal cell carcinoma (BCC) and microcystic adnexal carcinoma (MAC) are sclerosing adnexal neoplasms with overlapping histopathologic features. We compared cytokeratin 15, (CK15), T-cell death-associated gene 51 (TDAG51), cytokeratin 20 (CK20) and androgen receptor (AR) in differentiating these tumors and assessed their expression in BCC subtypes.

    Methods: Fifteen DTE, 15 infundibulocystic BCC, 18 micronodular BCC, 18 morpheaform BCC and 6 MAC were assessed for CK15, TDAG51, CK20 and AR expression. Read More

    Giant solitary trichoepithelioma.
    South Asian J Cancer 2015 Jan-Mar;4(1):41-4
    Department of Surgery, DMWIMS, Wayanad, Kerala, India.
    Adnexal tumors like giant solitary trichoepitheliomas are uncommon to most of us to permit a ready familiarity with them. Information regarding the genesis, clinical profile, behavior, and management options for this tumor is limited. There are 18 cases reported in the world literature till date. Read More

    Phenotype-genotype correlations for clinical variants caused by CYLD mutations.
    Eur J Med Genet 2015 May 14;58(5):271-8. Epub 2015 Mar 14.
    Department of Medical Genetics, University of Szeged, Szeged, Hungary; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
    Brooke-Spiegler syndrome (BSS; OMIM 605041) is an autosomal dominant condition characterized by skin appendageal neoplasms including cylindromas, trichoepitheliomas, and/or spiradenomas. In 1996, the gene locus for BSS was mapped to 16q12-13, and, in 2000, mutations in the cylindromatosis (CYLD) gene were determined to cause BSS, familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma type 1 (MFT1; OMIM 601606). The CYLD gene encodes an enzyme with deubiquitinase activity. Read More

    Inexplicable Co- Existence of Eccrine Spiradenoma and Lichen Planus in an old Case of Basal Cell Carcinoma.
    J Clin Diagn Res 2015 Jan 1;9(1):ED01-2. Epub 2015 Jan 1.
    Post Graduate, Department of Pathology, Affiliated to Rajiv Gandhi University of Health Sciences, Adichunchanagiri Institute of Medical Sciences , B. G. Nagar, Mandya, Karnataka, India .
    Eccrine spiradenoma is a rare benign adnexal tumour usually seen in the head, neck or upper trunk in young adults. It is rare in the lower extremities and in the elderly. Co- existence of eccrine spiradenoma with other lesions like cylindroma, trichoepithelioma, hidradenoma and chondroid syringoma has been documented in literature. Read More

    The importance of cytokeratin 19 expression in the differentiation of Basal cell carcinoma and trichoepithelioma.
    J Clin Diagn Res 2015 Jan 1;9(1):EC01-4. Epub 2015 Jan 1.
    Assistant Professor, Recep Tayyip Erdogan University, Medical Faculty , Department of Dermatology, Rize /Turkey .
    Introduction: Basal cell carcinoma (BCC) is the most common skin neoplasm reported in human. On the other hand, trichoepithelioma (TE) is a rare, benign tumour of skin adnexa. The differentiation of BCC and TE may be difficult since their morphological findings are similar. Read More

    CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas.
    PLoS Curr 2015 Feb 19;7. Epub 2015 Feb 19.
    Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
    The clinical presentation of multiple, rare, skin appendage tumours called cylindromas has been attributed to germline mutations in the tumour suppressor gene CYLD (OMIM 605018). Brooke-Spiegler Syndrome (BSS), familial cylindromatosis (FC) and multiple familial trichoepitheliomas (MFT) (OMIM #605041, #132700, #601606 respectively) differ due to the types of other skin appendage tumour seen together with cylindroma, such as spiradenoma and trichoepithelioma. Previously thought to be separate entities, they are now viewed as allelic variants with overlapping phenotypes, supported by mutation analysis of CYLD . Read More

    Cutaneous malignancies of the perineum.
    Clin Obstet Gynecol 2015 Mar;58(1):158-71
    Division of Dermatology, The Ohio State University, Columbus, Ohio.
    This review discusses multiple cutaneous malignancies that can present on the perineum. Although all of these neoplasms are uncommon, a focus will be on the more common neoplasms including extramammary Paget disease, basal cell carcinoma, squamous cell carcinoma, and melanoma. Other more rare entities discussed are superficial leiomyosarcoma, giant solitary trichoepithelioma, and cutaneous endometriosis. Read More

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