947 results match your criteria Pilomatrixoma

Pilomatrixoma in a child mimicking a ruptured epidermal cyst clinically and histopathologically: Case report.

Int J Surg Case Rep 2021 Jun 9;84:106068. Epub 2021 Jun 9.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.

Introduction And Importance: Pilomatrixoma is a superficial benign skin tumor that originates from the matrix cells of the hair follicles. It presents more frequently during the first two decades of life and usually involves the head and neck, most often in the eyelid or eyebrow area.

Case Presentation: We present a case of pilomatrixoma, which appeared at the age of 14 years with history of recurrent inflammation and discharge mimicking a ruptured epidermal cyst. Read More

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Pilomatrixoma misdiagnosed as dermatofibrosarcoma protuberans.

Chin Med J (Engl) 2021 Apr 6. Epub 2021 Apr 6.

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

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Pilomatrixoma with Atypical Features: A Case Report.

Case Rep Dermatol 2021 Jan-Apr;13(1):98-102. Epub 2021 Feb 4.

Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Pilomatrixoma is an uncommon, benign tumor with differentiation towards both the hair matrix and cells arising in the cortex, most frequently appearing in the first or second decade of life. In rare instances, pilomatrixomas can show malignant transformation. Pilomatrix carcinoma is extremely uncommon and has traditionally been considered a tumor of low malignant potential; however, a high local recurrence rate has been reported. Read More

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February 2021

Pilomatrixoma: a common tumour of head and neck, but rarely reported.

BMJ Case Rep 2021 Feb 1;14(2). Epub 2021 Feb 1.

Oral and Maxillofacial Surgery, Yenepoya Dental College, Mangalore, Karnataka, India.

Pilomatrixoma is a benign subcutaneous tumour arising from the sebaceous glands. Mutation in the CTNNB1 gene is seen, suggesting beta-catenin misregulation may be the cause of pilomatrixoma. The preoperative diagnosis may be improved by the awareness of the fact that pilomatrixoma is a common and benign skin tumour of the head and neck region. Read More

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February 2021

Minimally invasive surgical treatment of pilomatrixoma.

ANZ J Surg 2020 Dec 28. Epub 2020 Dec 28.

Department of Paediatric Surgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Background: Pilomatrixoma is a benign skin tumour often presenting as a firm irregular mass in the paediatric population. The most common site is on the head and neck. Traditionally, a wide local excision has been the method of management. Read More

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December 2020

Vulvar Pilomatrix Carcinoma: Morphologic and Molecular Features.

Int J Gynecol Pathol 2020 Nov 24. Epub 2020 Nov 24.

Departments of Pathology (D.B.) Gynecology (M.C.S.M.) Oncology (C.S.S), Hospital Ramón y Cajal Department of Pathology, Hospital Ramón y Cajal, Madrid; IRYCIS (T.C.C.) Department of Pathology, Hospital Ramón y Cajal; IRYCIS; CIBER-ONC Carlos III Health Institute; Faculty of Medicine, University of Alcalá de Henares (J.P., B.P.M.), Madrid, Spain.

Pilomatrix carcinoma (PC) is a rare malignant variant of pilomatrixoma, a skin adnexal tumor originating from hair matrix cells. It is most often located in the head, neck region, upper back and upper extremities. PC has a locally aggressive behavior but metastasis only occur in 10% of cases. Read More

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November 2020

Clinical analysis and review of literature on pilomatrixoma in pediatric patients.

Arch Craniofac Surg 2020 Oct 20;21(5):288-293. Epub 2020 Oct 20.

Department of Plastic and Reconstructive Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Background: Pilomatrixoma is a benign tumor that originates from the hair follicle matrix. It usually presents as a hard, slow growing, solitary mass that can be easily misdiagnosed as other skin masses. The aim of this study was to clinically analyze a case series of pilomatrixoma in pediatric patients from Korea. Read More

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October 2020

Comparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing.

Cancer Genomics Proteomics 2020 Nov-Dec;17(6):795-802

Department of Pathology, Chungnam National University School of Medicine, Daejeon, Republic of Korea

Background: Malignant pilomatricoma (MP) is a rare cancer of the hair matrix with only a few cases reported in literature. Given the rarity of this cancer and the lack of relevant genetic data, very little is known about the nature of the molecular pathophysiology except the involvement of the Catenin Beta 1 (CTNNB1)/Wnt/β-catenin signaling pathway in some cases.

Materials And Methods: We describe the whole-exome genomic profiling of four samples from two patients: 1) an MP from patient I, 2) a coexisting benign pilomatricoma (BP) from patient I, 3) a BP from an age and location-matched control patient II, and 4) normal skin tissue from patient II. Read More

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Sonographic characteristics of pilomatricomas and their association with symptom duration.

Medicine (Baltimore) 2020 Oct;99(40):e22550

Department of Radiology, Saitama Children's Medical Center, Saitama, Japan.

This study aimed to investigate the associations between the sonographic findings and duration of symptoms in children with pilomatricoma.This study included 86 children with 95 lesions confirmed to be pilomatricoma after pathological examination. The associations between symptom duration and sonographic observations, including the presence or absence of peritumoral hyperechogenicity, calcification, and vascularity were investigated. Read More

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October 2020

Bilateral Cervical Pilomatricoma: A Diagnostic Dilemma for the Pediatric Otolaryngologist.

Ear Nose Throat J 2020 Sep 28:145561320958978. Epub 2020 Sep 28.

Department of Otolaryngology, University of Texas Medical Branch, Galveston, TX, USA.

Pilomatricomas are benign skin tumors often encountered by otolaryngologists but frequently misdiagnosed. Although they can occur at any age, they commonly present in children as a discolored superficial lesion adhered to the overlying skin. Accurate preoperative diagnosis is crucial for appropriate management, which is surgical in most cases. Read More

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September 2020

Proliferating pilomatricoma in a 9-year-old girl.

Pediatr Dermatol 2020 Nov 28;37(6):1187-1188. Epub 2020 Sep 28.

University of Massachusetts Medical School, Worcester, Massachusetts, USA.

Proliferating pilomatricoma is a rare, benign tumor of hair matrix origin that rarely occurs in children. We report the case of a 9-year-old girl with a rapidly growing, proliferating pilomatricoma located on the glabella. The lesion was embolized and surgically excised, with histopathological examination of the tissue confirming the diagnosis of proliferating pilomatricoma. Read More

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November 2020

Giant pilomatrixoma: a distinctive clinical variant: a new case and review of the literature.

Dermatol Online J 2020 Aug 15;26(8). Epub 2020 Aug 15.

Department of Dermatology, Hospital Arnau de Vilanova, Valencia.

Pilomatrixoma is a benign adnexal tumor very common in pediatric age and in young adults that derives from follicular matrix cells. Although clinically it usually presents as a subcutaneous nodule of bluish color less than 3cm in size, multiple clinicopathological variants have been described in the literature. Among these we can find the giant pilomatrixoma, a rare clinical variant that reaches a size greater than or equal to 4cm and can simulate the clinical presentation of a malignant neoplasm. Read More

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Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature.

Case Rep Genet 2020 29;2020:8831006. Epub 2020 Aug 29.

Laboratory of Anatomic Pathology, Hospital Sírio Libanês, Rua Dona Adma Jafet 91, 6° Floor, Block E, São Paulo, SP 01308-050, Brazil.

Pilomatrixoma () is an uncommon benign skin appendageal tumor that differentiates toward hair matrix cells. It is misdiagnosed in up to 75% of cases by nondermatologists. Although the histopathological findings are well recognized and characteristic, diagnosis by fine-needle aspiration biopsy may be quite challenging. Read More

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A Case Report of a Rapidly Growing Giant Pilomatrixoma on the Posterior Shoulder in a 12-Year-Old Male Patient.

Skin Appendage Disord 2020 Jul 3;6(4):240-243. Epub 2020 Jun 3.

Dr. Phillip Frost Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA.

Introduction: Giant pilomatrixomas are quite rare and can be clinically challenging to diagnose.

Case Presentation: Here, we report a case of a rapidly growing mass on the shoulder of a 12-year-old previously healthy boy. The lesion on his right shoulder appeared as a painless, pink-blue-colored solitary mass that started 6 months ago and rapidly enlarged to 4. Read More

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Not Your Average Skin Cancer: A Rare Case of Pilomatrix Carcinoma.

J Clin Aesthet Dermatol 2020 Jun 1;13(6):40-42. Epub 2020 Jun 1.

All authors are with HCA Healthcare/University of South Florida Morsani College of Medicine at Largo Medical Center Department of Dermatology in Largo, Florida.

Pilomatrix carcinoma is a rare malignancy stemming from aberrant proliferation of matrical cells found in developing hair. This neoplasm demonstrates a bimodal age distribution and a proclivity for developing on the head or neck. Clinically, a firm, painless, violaceous nodule with overlying ulceration is commonly described. Read More

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Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.

Pediatr Dermatol 2020 Nov 2;37(6):1139-1141. Epub 2020 Sep 2.

Department of Pathology, CMC Hospital, Vellore, India.

Constitutional mismatch repair deficiency (CMMRD) syndrome results from bi-allelic mutations in DNA mismatch repair genes-MLH1, MSH2, MSH6, or PMS2. We present two siblings with CMMRD having p.Arg802Ter (c. Read More

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November 2020

A rare case of post-traumatic infected pilomatricoma of the finger of the hand diagnosed after performing radioiodine therapy.

J Biol Regul Homeost Agents 2020 May-Jun;34(3 Suppl. 2):83-87

Institute of Orthopedics, Fondazione Policlinico Universitario Agostino Gemelli - IRCCS, Largo Agostino Gemelli 8, Rome, Italy.

We present the clinical case of a young woman with pilomatricoma of the finger, a very rare location. The patient got infected after receiving radioiodine therapy to treat a thyroid carcinoma. Given the patient's high functional requirements we choose a minimal treatment which allowed her to maintain a sufficient functionality. Read More

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November 2020

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

An Bras Dermatol 2020 Sep - Oct;95(5):619-622. Epub 2020 Jul 15.

Dermatology Service, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil; Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil; Pediatric Dermatology Unit, Dermatology Service, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address:

Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Read More

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November 2020

Pseudocystic pilomatricoma: A new variant and review of the literature.

Australas J Dermatol 2021 Feb 23;62(1):60-63. Epub 2020 Jul 23.

Department of Plastic and Reconstructive Surgery, Kangwon National University Hospital, Chuncheon, Gangwon-Do, Korea.

A classic pilomatricoma, which usually presents with an asymptomatic, solitary, firm, subcutaneous nodule in the head, neck, or extremities of the paediatric population, is easily diagnosed based on its characteristic clinical and histopathological features. However, its variants often pose particular diagnostic challenges to clinicians due to their rarity and diverse clinicopathological features. We present a new pseudocystic variant, manifesting as solid lesions floating in a fluid-filled sac. Read More

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February 2021

Primary mucinous carcinoma of the skin arising from the upper eyelid: A case report and literature review.

JPRAS Open 2020 Sep 18;25:18-23. Epub 2020 May 18.

Nagaoka Red Cross Hospital, Department of Plastic Surgery, Senshu-2 297-1, Nagaoka City, Niigata, 9402085, Japan.

Primary mucinous carcinoma of the skin (PMCS) is a rare malignant neoplasm of the sweat glands that has an incidence of 1 per 150,000 population. Because of the lack of typical characteristics, it is often misdiagnosed as an epidermoid cyst, pilomatrixoma, or chalazion before resection, with subsequent enucleation performed unintentionally. We present a case of a 51-year-old patient with PMCS in the upper eyelid that was successfully treated at our hospital. Read More

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September 2020

Distinguishing a Trichilemmal Cyst From a Pilomatricoma With Ultrasound.

J Ultrasound Med 2020 Oct 25;39(10):1939-1945. Epub 2020 Apr 25.

Department of Dermatology, Peking University Third Hospital, Beijing, China.

Objectives: To determine whether ultrasound (US) could distinguish a trichilemmal cyst from a pilomatricoma preoperatively.

Methods: Ultrasound images of 61 pathologically proven trichilemmal cysts and 90 pathologically proven pilomatricomas were analyzed retrospectively. Two radiologists evaluated several US features. Read More

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October 2020

Ossifying Pilomatrixoma of the Eyelid.

Ophthalmic Plast Reconstr Surg 2020 Nov/Dec;36(6):e147-e149

Departments of Ophthalmology.

Pilomatrixoma, an uncommon, usually benign cutaneous appendageal tumor, shows differentiation toward the hair follicle matrix cell. It undergoes various histopathologic stages, early on displaying epithelial and shadow cells along with granulomatous inflammation. In later stages, illustrated by this unusual case, epithelial cells disappear and are replaced by calcification and ossification. Read More

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Are clinicians successful in diagnosing cutaneous adnexal tumors? a retrospective, clinicopathological study

Turk J Med Sci 2020 06 23;50(4):832-843. Epub 2020 Jun 23.

Department of Dermatology, Göztepe Training and Research Hospital, İstanbul Medeniyet University, İstanbul, Turkey

Background/aim: Cutaneous adnexal tumors (CAT) are rare tumors originating from the adnexal epithelial parts of the skin. Due to its clinical and histopathological characteristics comparable with other diseases, clinicians and pathologists experience difficulties in its diagnosis.We aimed to reveal the clinical and histopathological characteristics of the retrospectively screened cases and to compare the prediagnoses and histopathological diagnoses of clinicians. Read More

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A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.

J Clin Endocrinol Metab 2020 06;105(6)

Universités Paris Sud, Paris Saclay, Faculté de Médecine; Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, France.

Context: Primary Ovarian insufficiency (POI) affects 1% of women aged <40 years and leads most often to definitive infertility with adverse health outcomes. Very recently, genes involved in deoxyribonucleic acid (DNA) repair have been shown to cause POI.

Objective: To identify the cause of a familial POI in a consanguineous Turkish family. Read More

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Dermoscopic and Immunohistochemical Observations in Anetodermic Pilomatricoma: A Case Report.

Acta Derm Venereol 2020 Mar 18;100(6):adv00088. Epub 2020 Mar 18.

Department of Dermatology, Affiliated Hospital of Guangdong Medical University, 524001 Zhanjiang, China.

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Pilomatrix carcinoma of the lacrimal caruncle: a case report.

Arq Bras Oftalmol 2020 Mar-Apr;83(2):153-156

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.

A 45-year-old man presented with a 3-month history of a mass located in the caruncle of his right eye. An incisional biopsy had been performed one month prior by another specialist, and the histopathology report showed basal cell carcinoma. The mass was completely excised with a 2 mm safety margin, and the large conjunctival defect was reconstructed with one sheet of amniotic membrane allograft. Read More

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Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.

PLoS One 2020 10;15(3):e0230003. Epub 2020 Mar 10.

Institute of Pathology, RWTH Aachen University, Aachen, Germany.

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease which results from an expansion of repetitive DNA elements within the 3' untranslated region of the DMPK gene. Some patients develop multiple pilomatricomas as well as malignant tumors in other tissues. Mutations of the catenin-β gene (CTNNB1) could be demonstrated in most non-syndromic pilomatricomas. Read More

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KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Am J Med Genet A 2020 05 3;182(5):1073-1083. Epub 2020 Mar 3.

Laboratory of Medical Genetics, Medical Genetics, Rare Diseases, Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

KBG syndrome (MIM #148050) is an autosomal dominant disorder characterized by developmental delay, intellectual disability, distinct craniofacial anomalies, macrodontia of permanent upper central incisors, skeletal abnormalities, and short stature. This study describes clinical features of 28 patients, confirmed by molecular testing of ANKRD11 gene, and three patients with 16q24 deletion encompassing ANKRD11 gene, diagnosed in a single center. Common clinical features are reported, together with uncommon findings, clinical expression in the first years of age, distinctive associations, and familial recurrences. Read More

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