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Arch Craniofac Surg 2022 Apr 30;23(2):83-88. Epub 2022 Mar 30.

International Aesthetic Medical Center, E-Da Dachang Hospital, Kaohsiung, Taiwan.

Nevus sebaceous of Jadassohn is a congenital cutaneous hamartoma with epidermal, sebaceous, follicular, and apocrine structures that usually appears at birth or in early childhood. It has the potential to generate a variety of secondary neoplasms of different lineages, and the risk increases with patient age. Although multiple neoplasms may occasionally arise within the same lesion, the coexistence of more than five secondary tumors is extremely rare. Read More

JAAD Case Rep 2022 Mar 6;21:70-73. Epub 2022 Jan 6.

Dermatology Service, KK Women's and Children's Hospital, Singapore.

Clin Cosmet Investig Dermatol 2022 7;15:185-188. Epub 2022 Feb 7.

Department of Dermatology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Eastern Province, Saudi Arabia.

Nevus sebaceous of Jadassohn (NSJ) is a benign congenital hamartoma composed of follicular, adnexal appendages and epidermal hyperplasia. Various secondary neoplasms, mostly adnexal in origin, can arise within nevus sebaceous. We report the case of a 16-year-old female who had NSJ associated with trichilemmoma, which was successfully treated with cryotherapy. Read More

Front Med (Lausanne) 2021 27;8:688105. Epub 2021 Jul 27.

Department of Medical and Surgical Sciences, Center for Studies on Hereditary Cancer, University of Bologna, Bologna, Italy.

Germline pathogenic variants cause a spectrum of disorders collectively labeled Hamartoma Tumor Syndrome (PHTS) and featured by hamartomas, developmental anomalies and increased cancer risk. Studies on experimental models provided evidence that is a "haploinsufficient" tumor-suppressor gene, however, mechanisms involved in the pathogenesis of clinical manifestations in PHTS patients remain elusive. Beyond analyzing clinical and molecular features of a series of 20 Italian PHTS patients, we performed molecular investigations to explore the mechanisms involved in the pathogenesis of -associated manifestations, with special focus on mucocutaneous manifestations. Read More

BMJ Case Rep 2021 May 10;14(5). Epub 2021 May 10.

Oral and Maxillofacial Surgery, Worcestershire Acute Hospitals NHS Trust, Worcester, UK.

Trichilemmoma is a benign tumour which arises from the hair follicle root sheath, and commonly occurs in the head and neck area. Malignant transformation and locally aggressive growth of these tumours are very rare. Surgical excision remains the mainstay of management, with scarce evidence for other treatment modalities. Read More

Australas J Dermatol 2021 Aug 10;62(3):e462-e464. Epub 2021 May 10.

Department of Pathology, AIIMS, Bhubaneswar, India.

J Clin Aesthet Dermatol 2020 Jun 1;13(6):46-47. Epub 2020 Jun 1.

Ms. Colón is with the University of Florida College of Medicine in Gainesville, Florida.

Desmoplastic trichilemmoma is a rare histological variant of a benign tumor of the pilosebaceous hair follicle that often clinically appears as similar in appearance to other cutaneous lesions. Here, an 81-year-old male patient with desmoplastic trichilemmoma found on the left zygoma is presented. During the dermatoscopic evaluation of the neoplasm, crown vessels with radial distribution in the periphery were displayed. Read More

Dermatopathology (Basel) 2020 Aug 25;7(2):26-37. Epub 2020 Aug 25.

School of Graduate Studies, Rutgers University, New Brunswick, NJ 08901, USA.

Degos and Civatte first described clear cell acanthoma (CCA) in 1962 and later in a review article found that, in most instances, the lesion was a solitary red-brown dome-shaped papule that involved the distal lower extremity. The first morphologic variant of CCA was reported as a "giant form of the acanthoma of Degos" which measured 45 × 40 mm, about twice the size of the largest CCA documented earlier. Since then, many variants of CCA have been described, including polypoid, pigmented and atypical. Read More

BMJ Open Ophthalmol 2020 25;5(1):e000513. Epub 2020 Jun 25.

Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, UK.

Objective: Trichilemmoma is a benign tumour derived from the outer root sheath of hair follicles. Trichilemmoma can be associated with basal cell carcinoma (BCC), either as a collision lesion or from malignant transformation. This study evaluates malignancy associated with eyelid trichilemmoma and principles of treatment. Read More

Dermatol Ther 2020 11 8;33(6):e13762. Epub 2020 Jul 8.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center For Children's Health, Beijing, China.

Secondary neoplasms of epidermal adnexal origin have been reported to develop into nevus sebaceous (NS), mainly in adulthood but rarely in children. Four cases of secondary neoplasms were identified in 413 children of nevus sebaceous from 2015 to 2019 by our department, accounting for 1% of all cases. We here report the clinical, dermoscopical, and histopathological features of these tumors, including syringocystadenoma papilliferum (SCAP), pilomatricoma, trichilemmoma, and basal cell carcinoma (BCC). Read More

Indian Dermatol Online J 2020 Mar-Apr;11(2):253-255. Epub 2020 Mar 9.

Department of Dermatology, SVS Medical College, Mahbubnagar, Telangana, India.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

School of Medicine, University of California San Diego, La Jolla, CA.

Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Read More

Int J Clin Exp Pathol 2019 1;12(10):3953-3955. Epub 2019 Oct 1.

Department of Pathology, PLA 81 Group Hospital Zhangjiakou, China.

Nevus sebaceous is a congenital hamartoma of cutaneous structures, commonly associated with the development of secondary neoplasms. Desmoplastic trichilemmoma is characterized by the typical features of trichilemmoma (proliferation of columnar clear cells surrounded by cells forming a palisade resting on a thickened eosinophilic basement membrane) but contains a fibrous stroma with bands of epithelial cells, generally in the central zone. To the best of our knowledge, only 5 cases of desmoplastic trichilemmoma arising in a nevus sebaceous have been reported previously. Read More

J Int Med Res 2019 Aug 15;47(8):3918-3925. Epub 2019 Jul 15.

Department of Dermatology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Acta Histochem 2019 Aug 21;121(6):765-767. Epub 2019 Jun 21.

Pathology Unit, S.Orsola Malpighi Hospital, Bologna University, Bologna, Italy.

Tricholemmal carcinoma is a malignant cutaneous adnexal tumor showing outer root sheath differentiation, thought to be the malignant counterpart of trichilemmoma. Although the real existence of tricholemmal carcinoma continues to be a matter of debate, it has been introduced in the recently published 4th edition of World Health Organization classification of skin tumors. Herein, we evaluated whether immunohistochemistry (EMA, CK7, CK5/14, p63, p16, and Ber-EP4) supports tricholemmal carcinoma as a separate entity and whether it could be useful in this differential diagnosis. Read More

Am J Dermatopathol 2019 Nov;41(11):810-818

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

An Bras Dermatol 2017 Nov-Dec;92(6):836-837

Private Clinic - São Paulo (SP), Brazil.

Nevus sebaceous of Jadassohn is a congenital hamartoma that usually affects the scalp and face. Several benign or malignant neoplasias may develop in the lesion and the most common are trichoblastoma, syringocystadenoma papilliferum, and basal cell carcinoma. Trichilemmoma is a benign solid tumor originating from external sheath cells of pilosebaceous follicles. Read More

Am J Dermatopathol 2018 Feb;40(2):131-135

Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Korea.

Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous. Read More

Arch Craniofac Surg 2017 Mar 25;18(1):46-49. Epub 2017 Mar 25.

Department of Pathology, Busan-Baik Hospital, Inje University School of Medicine, Busan, Korea.

Nevus sebaceus is a hamartoma of the sebaceous gland that occurs congenitally, from which various secondary tumors can arise with a prevalence of 5%-6%. Benign neoplasms commonly arise from nevus sebaceous, but they have a very low malignant potential. Two neoplasms may occasionally arise within the same lesion, but it is rare for three or more neoplasms to occur in a nevus sebaceus simultaneously. Read More

Ann Saudi Med 2017 May-Jun;37(3):240-244

Lenah Alwatban, Department of Dermatology,, MBC 104, King Faisal Specialist Hospital and Research Centre,, PO Box 3354 Riyadh 11211,, Saudi Arabia, T: +966569450282 ORCID: http://orcid.org/0000-0002-0624-9910.

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system.

Objectives: Describe the dermatologic manifestations in patients suffering from XP. Read More

Actas Dermosifiliogr 2017 11 11;108(9):863-864. Epub 2017 May 11.

Servicio de Anatomía Patológica, Hospital General de Ciudad Real, Ciudad Real, España.

J Am Acad Dermatol 2017 Feb;76(2S1):S22-S24

Melanoma and Skin Cancer Unit, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Department of Pathology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Ophthalmic Plast Reconstr Surg 2017 Jul/Aug;33(4):233-236

*Ocular Oncology Service and †Department of Ophthalmic Pathology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, U.S.A.

Introduction: Cutaneous horn of the eyelid is uncommon. The authors evaluate the features of benign, premalignant, and malignant tumors at the base of cutaneous horn of the eyelid.

Objective: To describe the clinical and histopathologic features of cutaneous horn of the eyelid. Read More

J Cutan Pathol 2017 Jan 21;44(1):93-97. Epub 2016 Oct 21.

Department of Dermatology, Tufts Medical Center, Boston, MA, USA.

Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Read More

J Cutan Pathol 2017 Jan 20;44(1):79-82. Epub 2016 Oct 20.

Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA.

Cowden syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Read More

J Biol Regul Homeost Agents 2016 Apr-Jun;30(2 Suppl 2):17-20

Department of Medical 1Department of Pathology, Division of Dermatopathology, University of Virginia Health System, Charlottesville, Virginia.

Trichilemmoma and trichoblastoma are benign adnexal neoplasms derived from the hair follicle unit. While trichilemmomas are closely associated with the epidermis, trichoblastomas are found within the dermis and subcutaneous tissue. Both tumors have been reported to arise within nevus sebaceus of Jadassohn (NSJ). Read More

J Pediatr Health Care 2016 Sep-Oct;30(5):491-4. Epub 2016 Jun 29.

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

J Cutan Pathol 2016 Jun 15;43(6):535-537. Epub 2016 Apr 15.

Department of pathology, Hospital Clínico Universitario, University of Valencia, Valencia, Spain.

Desmoplastic trichilemmoma (DT), the pseudomalignant variant of conventional trichilemmoma described by Hunt et al in 1990, displays a superficial lobular growth pattern of glycogen-rich cells with peripheral nuclear palisading surrounded by a thickened basement membrane. DT differs from its conventional counterpart by showing a central hyalinized area with epithelial cords and strands mimicking invasive carcinoma. We report a case that fully satisfies the criteria for DT and, in addition, shows an extensive melanocytic cell component and prominent melanin deposition. Read More

An Bras Dermatol 2015 Nov-Dec;90(6):780-96; quiz 797-8

Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.

Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. Read More