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Indian J Pathol Microbiol 2019 Apr-Jun;62(2):313-318

Department of Pathology, Government Medical College, Kottayam, Kerala, India.

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the development of multiple cutaneous adnexal neoplasms namely cylindroma, trichoepithelioma and spiradenoma. The neoplasms associated with this syndrome are generally benign, but rarely they may undergo malignant transformation. A 63-year-old male presented with an ulcerated nodular lesion over glabella and multiple asymptomatic nodular lesions over face, scalp, chest and limbs. Read More

Am J Dermatopathol 2019 Feb 26. Epub 2019 Feb 26.

CellCOM-SB Research Group Department, Institute for Biomedical Research of A Coruña (INIBIC), University of A Coruña (UDC), A Coruña, Spain.

Introduction: Benign cutaneous tumors with follicular differentiation are alleged to differentiate toward parts of the hair follicle. Connexin 43 (Cx43) is a gap junction protein, the tumoral role of which has been investigated in several types of tumors.

Objective: To study the pattern of expression of Cx43 in benign cutaneous tumors with follicular differentiation and to compare it with that shown by their alleged anatomical counterparts of the hair follicle. Read More

J Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Dermatology, Air Force General Hospital, Chinese People's Liberation Army, Beijing, China.

Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) are both autosomal dominant disorders. Recently, certain genes (HR and EPS8L3) have been found to be responsible for MUHH, while CYLD has been demonstrated to be the main pathogenic gene in MFT patients. However, there exist a number of CYLD mutation-negative MFT cases, for which the causative gene has been unknown. Read More

J Cytol 2018 Oct-Dec;35(4):204-207

Department of Pathology, ESI Hospital, New Delhi, India.

Background: Skin adnexal neoplasms are relatively rare and thus uncommonly encountered in routine pathology practice.

Aims: The present study was conducted with the aim to diagnose various skin adnexal tumors on fine-needle aspiration cytology (FNAC) followed by confirmation on histopathology and immunohistochemistry of the excised tumor.

Materials And Methods: A total of 11 cases of superficial nodular swellings of the skin were studied over a period of 2 years from 2015 to 2016. Read More

J Craniofac Surg 2018 Nov 2. Epub 2018 Nov 2.

Department of Plastic and Reconstructive Surgery, Uijeongbu St Mary's Hospital, College of Medicine, the Catholic University of Korea, Gyeonggi-do, Korea.

Trichoepithelioma is a benign tumor which can be easily confused with basal cell carcinoma. Since both tumors are histologically similar, it is important to distinguish them correctly as the courses for treatment are very different. Basal cell carcinoma is malignant; therefore, it requires total surgical excision, including a wide healthy margin. Read More

Am J Dermatopathol 2018 Sep 24. Epub 2018 Sep 24.

Department of Plastic, Reconstructive and Aesthetic Surgery, Bülent Ecevit University Health Practice and Research Center, Zonguldak, Turkey.

Indian J Ophthalmol 2018 Oct;66(10):1506-1508

Department of Orbit and Oculoplasty, Aravind Eye Hospital and Post-graduate Institute of Ophthalmology, Pondicherry, India.

Benign eyelid tumors derived from hair follicles are rare and frequently misdiagnosed as basal-cell carcinoma when evaluation is based on clinical evidence alone. The discrepancy between the clinical aspect and the histological diagnosis can be as high as 30-40%, even for experienced clinicians. Unfortunately, this masquerade is not only clinical but also histological. Read More

Int J Surg Case Rep 2018 12;51:277-281. Epub 2018 Sep 12.

Department of Plastic and Reconstructive Surgery, University Hospital of Foggia, Foggia, Italy.

Introduction: The authors present a "four-step" integrated surgical protocol to treat a rare case of multiple giant eccrine spiradenoma (ES) of the head and neck in a young patient.

Presentation Of Case: An 18-year-old female patient presented with multiple swellings in the head and neck regions. The patient had a severe psychological trauma with a negative impact on her social life. Read More

Medicine (Baltimore) 2018 Sep;97(38):e12252

Department of Plastic and Reconstructive Surgery, Chonnam National University Medical School, Gwangju, Korea.

Rationale: Trichoepithelioma (TE) is a rare benign skin tumor that originates from the hair follicle epithelium. Although skin lesions arising from scar tissues are mostly malignant, the development of a benign tumor such as TE is a rare event.

Patient Concerns: A 28-year-old male patient who had a scar on the left cheek which arose 10 years ago because of a chemical burn visited our hospital. Read More

Eplasty 2018 23;18:ic14. Epub 2018 Jul 23.

Department of Plastic Surgery, Morsani College of Medicine, Tampa, Fla.

S D Med 2018 Apr;71(4):164-166

Department of Pathology, University of South Dakota, Sanford School of Medicine, Sioux Falls, South Dakota.

Primary cutaneous osteosarcoma is an exceedingly rare malignant mesenchymal neoplasm of the skin which produces bone, osteoid, or chondroid material and does not involve the underlying bone. The most common site for extraskeletal osteosarcoma is in the deep soft tissues of the thigh, upper extremities, and retroperitoneum; however, it may occur anywhere in the body. Involvement of the skin is rare and when it does occur it is more commonly due to metastatic disease rather than a primary malignancy. Read More

Acta Dermatovenerol Croat 2018 Jun;26(2):162-165

Amin Karimzadeh, MD, Department of Dermatology, Faculty of Medicine, Jahrom University of Medical Sciences, Motahari Blvd, PO Box: 74148-46199, Jahrom, Iran;

Trichoepithelioma is an uncommon benign adnexal neoplasm. It can present as a solitary non-familial or multiple familial form. Trichoepithelioma usually develops in early childhood or puberty. Read More

Arch Dermatol Res 2018 Sep 4;310(7):599-606. Epub 2018 Jul 4.

Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.

Mutations in the tumor suppressor gene CYLD underlie phenotypically heterogeneous hereditary tumor disorders of the skin appendages. These diseases are inherited autosomal dominantly and include Brooke-Spiegler syndrome (BSS; OMIM 605041), familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma (MFT; OMIM 601606). Clinically, cylindromas, trichoepitheliomas and spiradenomas can be found in affected individuals. Read More

Virchows Arch 2018 Aug 22;473(2):241-246. Epub 2018 Jun 22.

Department of Dermatology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90419, Nürnberg, Germany.

Multiple familial trichoepitheliomas (MFT) is an autosomal dominantly inherited disease characterized by multiple skin appendage tumors. We describe a patient showing a continuous spectrum of follicular differentiated neoplasms including classical trichoepitheliomas but also infiltrative growing and finally metastasizing malignant follicular differentiated tumors. Germline mutation analysis revealed a nonsense mutation in the cylindromatosis (CYLD) gene. Read More

Case Rep Dermatol 2018 May-Aug;10(2):133-137. Epub 2018 May 18.

Dermatology Clinic, University Hospital Zurich, Zurich, Switzerland.

Basal cell carcinoma (BCC) is the most common cancer in humans worldwide. Many highly specific dermoscopic criteria for BCC are well established in the literature. On the contrary, other malignant or benign skin tumors may mimic BCC by exhibiting similar or even the same dermoscopic features and therefore obscuring the diagnosis of BCC in certain situations. Read More

J Cutan Pathol 2018 Nov 13;45(11):807-816. Epub 2018 Jul 13.

Dermatology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

Background: The distinction of trichoepithelioma from basal cell carcinoma in small superficial biopsies is important but often challenging. This has inspired many scientists to test the validity of immunohistochemical markers in the differential diagnosis.

Objectives: To develop an immunohistochemical protocol that helps in differentiation between both trichoepithelioma (TE) and basal cell carcinoma (BCC) with higher sensitivity and specificity. Read More

J Dtsch Dermatol Ges 2018 Jun;16(6):719-728

Department of Dermatology, Venereology and Allergology, University Medical Center, Würzburg, Germany.

Background And Objectives: The histological differential diagnosis between benign trichogenic skin tumors and basal cell carcinoma may be challenging. We therefore set out to investigate whether expression of CD10, a cell surface protein with neutral endopeptidase activity, might be a suitable marker for the histological differential diagnosis of trichogenic skin tumors.

Patients And Methods: We immunohistochemically analyzed 119 cases of benign trichogenic skin tumors and basal cell carcinoma. Read More

Indian Dermatol Online J 2018 May-Jun;9(3):222-223

Department of Dermatology, Venereology, and Leprology, AIIMS, Rishikesh, Uttarakhand, India.

Acta Med Port 2018 Mar 29;31(3):180. Epub 2018 Mar 29.

Serviço de Dermatovenereologia. Hospital de Vila Franca de Xira. Vila Franca de Xira, Portugal.

Am J Dermatopathol 2018 Aug;40(8):575-579

Department of Pathology, Section of Dermatopathology, University of Virginia Health System, Charlottesville, VA.

Sclerosing squamous cell carcinoma (SCC), also known as "desmoplastic" SCC, is a rare subtype of cutaneous malignancy. This variant is clinically significant because it is associated with an increased risk of local recurrence and metastasis. We herein present 16 examples of sclerotic SCC of the skin in 8 men and 3 women, with a median age of 66 years. Read More

Appl Immunohistochem Mol Morphol 2018 Apr 7. Epub 2018 Apr 7.

Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada.

Ber-EP4 has been the traditional immunostain used for the detection of basaloid skin tumors. Recently, MOC-31 has shown be superior to Ber-EP4 in the detection of basosquamous basal cell carcinoma (BCC) and many centers are now using both Ber-EP4 and MOC-31 antibodies together to detect these lesions. The objective of this study was to compare the utility of using both Ber-EP4 and MOC-31 immunostains in the detection of basaloid skin tumors and to better characterize the previously unknown staining properties of MOC-31 in cutaneous lesions. Read More

Ann Pathol 2018 Jun 2;38(3):198-201. Epub 2018 Apr 2.

Service de dermatologie, CHU de Caen, avenue côte-de-nacre, 14033 Caen, France.

We report a case of microcystic adnexal carcinoma in a 80-year-old woman. This is a rare malignant adnexal cutaneous tumor with glandular and follicular differentiation, rare, often asymptomatic, with late diagnosis and slow growth, locally aggressive and rarely metastatic. The distinction with other benign and malignant skin tumors is difficult. Read More

Int J Trichology 2017 Oct-Dec;9(4):181-183

Department of Pathology, Clínica Las Condes, Santiago, Chile.

Trichofolliculoma (TF) is a hamartomatous hair follicle-related tumor, clinically described as a dome-shaped papule with a central pore crossed by one or more silky white hairs. Histologically, it described as a cystic cavity containing keratinous debris, hair shaft fragments, and numerous hair follicles arising from its linings. Collision or compound tumors are a coexistence of two or more identifiable tumors in the same lesion. Read More

Arch Pathol Lab Med 2017 Nov;141(11):1490-1502

From the Departments of Pathology (Drs Stanoszek, Wang, and Harms) and Dermatology (Dr Harms), University of Michigan Medical School, Ann Arbor. Drs Stanoszek and Wang contributed equally.

Context: - Basal cell carcinoma (BCC) is the most common human malignant neoplasm and is a frequently encountered diagnosis in dermatopathology. Although BCC may be locally destructive, it rarely metastasizes. Many diagnostic entities display morphologic and immunophenotypic overlap with BCC, including nonneoplastic processes, such as follicular induction over dermatofibroma; benign follicular tumors, such as trichoblastoma, trichoepithelioma, or basaloid follicular hamartoma; and malignant tumors, such as sebaceous carcinoma or Merkel cell carcinoma. Read More

Am J Dermatopathol 2018 Dec;40(12):924-926

Dermatopathology Laboratory, Dermatologikum, Hamburg, Germany.

Induction of follicular germinative structures above a dermatofibroma (DF) is a common finding. Rarely, induction of a trichoblastoma in a DF has been observed. Here, we report the case of a desmoplastic trichoepithelioma induced by a DF. Read More

Indian Dermatol Online J 2017 Sep-Oct;8(5):358-360

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Trichoepithelioma is a benign tumor of follicular unit. It has been rarely described as the cause of leonine facies. We are presenting a classical case of multiple familial trichoepitheliomas (MFTs) with characteristic histopathological features leading to leonine facies. Read More

Clin Exp Dermatol 2017 Dec 4;42(8):906-909. Epub 2017 Oct 4.

Department of Dermatology, Turkiye Cumhuriyeti Saglik Bakanligi Okmeydani Egitim ve Arastirma Hastanesi, Istanbul, Turkey.

Brooke-Spiegler syndrome (BSS) is a rare, autosomal dominant disorder characterized by multiple adnexal tumours, especially trichoepitheliomas, cylindromas and occasionally spiradenomas. These lesions usually begin to appear in the second or third decade of life. Malignant transformation of pre-existing tumours may occur. Read More

Clin Exp Dermatol 2018 Jan 20;43(1):108-109. Epub 2017 Sep 20.

Department of Dermatology, Chung-Ang University College of Medicine, Seoul, South Korea.

J Clin Diagn Res 2017 Jul 1;11(7):MD09-MD10. Epub 2017 Jul 1.

Junior Resident, Department of Ear, Nose and Throat, Sri Siddhartha Medical College, Agalakote, Karnataka, India.

Nevus sebaceus of Jadassohn is a congenital tumour affecting the scalp and face. It is usually presented as a pigmented patch or plaque. It is a complex cutaneous hamartoma which involves pilosebaceous follicle, epidermis and adnexal structures. Read More

Saudi J Ophthalmol 2017 Jul-Sep;31(3):183-185. Epub 2017 May 17.

New York Eye and Ear Infirmary, 310 East 14th Street, New York, NY 10003, United States.

Trichilemmal carcinomas are rare malignant adnexal tumors which can involve the head and, rarely, the eyelid. Accurate diagnosis and differentiation from basal cell carcinoma or trichoepithelioma are dependent on histopathological and immunohistochemical analysis. We report a case of an eyelid mass, initially diagnosed by incisional biopsy as a trichoepithelioma, later found on excisional biopsy to be a trichilemmal carcinoma and present a review of the literature of the histopathology, differential diagnosis and management. Read More

Open Access Maced J Med Sci 2017 Jul 19;5(4):439-444. Epub 2017 Jul 19.

Medical Institute of Ministry of Interior (MVR), Department of Dermatology and Dermatologic Surgery, General Skobelev 79, 1606 Sofia, Bulgaria; Onkoderma - Policlinic for Dermatology, Venereology and Dermatologic Surgery, 26 General Skobelev blvd., Sofia, Bulgaria.

Background: Fibroepithelioma of Pinkus (FeP) is an uncommon and controversial skin lesion, sharing features of both basal cell carcinoma (BCC) and trichoepithelioma. In this article, we present a case of FeP and synthesise current concepts on the etiopathogenesis, diagnosis and treatment of this uncommon tumour.

Case Report: We report the case of an 88-year-old male patient presenting to the dermatology clinic for a sharply demarcated, pink, exophytic cutaneous tumour situated in the left inguinal region. Read More

Curr Treat Options Oncol 2017 08;18(8):49

St Helens and Knowsley Teaching Hospitals NHS Trust, Marshalls Cross Road, St Helens, WA9 3DA, UK.

Opinion Statement: Microcystic adnexal carcinoma (MAC) is a rare, slow-growing, infiltrative malignant tumour most commonly found on the head and neck. It often presents as a solitary skin-coloured or yellow papule, plaque or nodule. Ultraviolet radiation, immunosuppression and ionising radiation are possible risk factors. Read More

Dermatol Surg 2017 Aug;43(8):1012-1016

*Division of Dermatology, Department of Internal Medicine, Washington University, St. Louis, Missouri; †Department of Pathology and Immunology, Washington University, St. Louis, Missouri.

Background: Microcystic adnexal carcinoma (MAC) is a rare, locally aggressive cutaneous neoplasm that commonly occurs on the face.

Objective: The purpose of this article is to comprehensively review the current literature on MAC pertaining to epidemiology, pathogenesis, clinical presentation, histology, immunohistochemistry, prognosis, follow-up, and treatment.

Materials And Methods: An extensive literature review was conducted using OVID MEDLINE and PubMed to identify articles relating to MAC. Read More

Dermatol Online J 2017 Jun 15;23(6). Epub 2017 Jun 15.

Department of Dermatology, Hospital de Santarém EPE, Santarém, Portugal.

A healthy 31-year-old woman presented with a 20-year history of asymptomatic skin-colored papules and nodules on the central area of the face. Her maternal grandmother, aunts, mother, and sister also had similar lesions. Clinical, histopathological, and genetic features allowed the diagnosis of multiple familial trichoepithelioma. Read More

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

J Cutan Pathol 2017 Jul 16;44(7):657-659. Epub 2017 May 16.

Division of Dermatopathology, University of Virginia Medical Center, Charlottesville, Virginia.

J Dermatol 2017 Sep 10;44(9):e228-e229. Epub 2017 May 10.

Department of Dermatology, Gifu University Graduate School of Medicine, Gifu, Japan.

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

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

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

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

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 CO 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 CO laser ablation and topical sirolimus, and the other was treated with topical sirolimus alone. Read More

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

Am J Dermatopathol 2017 10;39(10):793-794

Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic.

Skinmed 2016;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

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

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

Fukuoka Igaku Zasshi 2016 08;107(8):155-60

We here describe a case of solitary basaloid follicular hamartoma (BFH) : the case developing in company with senile lentigo on the nose. BFH is a relatively rare benign follicular neoplasm of undetermined etiology. Histologically, the specimen consisted of small-sized squamoid or basaloid cells and follicular germ-like cells in the periphery of the tumor nests. Read More

Clin Exp Dermatol 2016 Aug 24;41(6):682-4. Epub 2016 Jun 24.

Institute of Medical Biology, Immunos, Singapore.

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