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The American Journal of Dermatopathology Sep 2018Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. Although pilomatrixomas... (Review)
Review
INTRODUCTION
Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. Although pilomatrixomas are well-recognized lesions, clinically they are frequently misdiagnosed as other skin conditions. By reviewing all the literature over the past 10 years, the aims of this article are to analyze the cause, clinical presentation, management, and outcome of pilomatrixoma among children and adults to gain a more complete understanding of this lesion in today's clinical context.
METHODS
A MEDLINE and EMBASE search was conducted from January 2005 to February 2015 using a combination of the terms: "child," "childhood," "adult," and keywords: "pilomatrixoma," "pilomatricoma," and "calcifying epithelioma of Malherbe." A total of 150 articles were reviewed.
RESULTS
The lesions occurred most commonly in the first and second decades (mean age 16 years and 7 months). The commonest presentation was of an asymptomatic, firm, slowly growing, mobile nodule. Only 16% were accurately diagnosed on clinical examination. Imaging in the form of ultrasound, computed tomography, and magnetic resonance imaging has been reported. Pathological diagnosis was achieved through incision, punch, and shave biopsies. Pathological findings are discussed and summarized in this review.
CONCLUSION
Pilomatrixomas are thought to arise from mutation in the Wnt pathway and has been linked to several genetic conditions. It is commonly misdiagnosed preoperatively; however, with better awareness of the lesion, it can be appropriately treated while avoiding unnecessary diagnostic tests. Complete surgical excision with clear margins is almost always curative.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biopsy; Child; Child, Preschool; Diagnosis, Differential; Female; Genetic Predisposition to Disease; Hair Diseases; Hair Follicle; Humans; Infant; Male; Margins of Excision; Middle Aged; Mutation; Phenotype; Pilomatrixoma; Predictive Value of Tests; Recurrence; Skin Neoplasms; Treatment Outcome; Wnt Signaling Pathway; Young Adult
PubMed: 30119102
DOI: 10.1097/DAD.0000000000001118 -
Ear, Nose, & Throat Journal Mar 2024Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood.... (Review)
Review
Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood. Pilomatrixomas are typically isolated, slow-growing, firm, nontender masses that are adherent to the epidermis but mobile in the subcutaneous plane. This clinical presentation is so characteristic that many experienced surgeons will excise suspected pilomatrixomas without prior imaging. We reviewed the results of this approach to determine whether physical examination alone differentiates pilomatrixomas from other similar soft tissue lesions of the pediatric head and neck. Computerized review of all pilomatrixomas over a 20-year period in a single academic pediatric otolaryngology practice. 18 patients presented to our pediatric otolaryngology practice between 2001 and 2021 with historical and physical findings consistent with pilomatrixoma. Of the 18 patients, 7 were male and 11 were female. Ages ranged from 1.5 to 14 years, with a mean of 7.5 years. Most of the lesions (12) were located in the head and face, while the rest (6) were found in the neck. All patients were treated with complete surgical excision. Pathology confirmed pilomatrixoma in 15 patients. The remaining 3 children were found to have an epidermal inclusion cyst, a ruptured trichilemmal cyst, and a giant molluscum contagiosum lesion, respectively. One additional patient presented with a small lesion of the auricular helix that was thought to be a dermoid cyst, but proved to be a pilomatrixoma on histologic examination. As pilomatrixomas are common and have a very characteristic presentation, surgical excision without prior diagnostic imaging will lead to correct treatment in the majority of cases. High resolution ultrasonography can help to confirm the diagnosis preoperatively, but is not definitive in large case series. Most of the cystic lesions that imitate pilomatrixoma will ultimately require surgical excision.
Topics: Child; Humans; Male; Female; Infant; Child, Preschool; Adolescent; Pilomatrixoma; Skin Neoplasms; Hair Diseases; Head and Neck Neoplasms; Epidermal Cyst
PubMed: 34549614
DOI: 10.1177/01455613211044778 -
JBR-BTR : Organe de La Societe Royale... 2011
Topics: Child; Female; Hair Diseases; Humans; Pilomatrixoma; Skin Neoplasms; Ultrasonography
PubMed: 21874815
DOI: 10.5334/jbr-btr.553 -
Chinese Medical Journal Apr 2021
Topics: Dermatofibrosarcoma; Diagnostic Errors; Hair Diseases; Humans; Pilomatrixoma; Skin Neoplasms
PubMed: 33840746
DOI: 10.1097/CM9.0000000000001457 -
Annals of the Royal College of Surgeons... Feb 2018We describe the largest reported case of pilomatrixoma in the literature. While pilomatrixomas typically present as small soft-tissue nodules of the head, neck and upper...
We describe the largest reported case of pilomatrixoma in the literature. While pilomatrixomas typically present as small soft-tissue nodules of the head, neck and upper extremities, they can also present as much larger masses in atypical locations. When they present in their usual size, pilomatrixomas have typical imaging features and can be correctly diagnosed with imaging studies before histological confirmation. Their clinical and imaging diagnosis become challenging when they are very large, as in our case. A giant pilomatrixoma should also be considered for paediatric patients presenting with a large subcutaneous soft-tissue mass.
Topics: Adolescent; Back; Hair Diseases; Humans; Male; Pilomatrixoma; Skin; Skin Neoplasms
PubMed: 29182000
DOI: 10.1308/rcsann.2017.0196 -
Journal of Cancer Research and... 2014Pilomatrixoma is a benign tumor of the skin. Malignant transformation can be seen rarely in the small percentage.
CONTEXT
Pilomatrixoma is a benign tumor of the skin. Malignant transformation can be seen rarely in the small percentage.
AIM
The aim of the following study is to attract attention to this tumor in the differential diagnosis because if it is not kept in mind it leads to both unnecessary interventions and treatments for the patient.
PATIENTS AND METHODS
From January 2006 to December 2012, 8 patients with pilomatrixoma were evaluated retrospectively.
RESULTS
A total of 8 pediatric pilomatrixoma patients' charts were reviewed retrospectively. None of the patients had familial feature. Of 8 patients 4 (50%) were male and 4 (50%) were female. The patients' age ranged from 2-18 years with a median age 11.5 years. All of the patients were admitted with the complaint of swelling at the lesion site. Two patients have multiple lesions, one of them has two and other has three lesions. A total of 11 lesion were detected in our 8 patients that 5 of them were located upper extremities (46%), 3 of them cervical region (27%), 2 of them on occipital region (18%) and 1 of them in the sacral region (9%). All lesions were excised completely. Until now, no patient had evidence of recurrence or malignant disease.
CONCLUSION
As a result pilomatrixoma is a benign tumor, with atypical forms and unfortunately, no tumor-specific diagnostic feature except of a careful histopathological examination is available.
Topics: Adolescent; Biopsy; Child; Child, Preschool; Diagnosis, Differential; Female; Hair Diseases; Humans; Male; Pilomatrixoma; Retrospective Studies; Skin Neoplasms; Treatment Outcome
PubMed: 25313737
DOI: 10.4103/0973-1482.137918 -
International Journal of Pediatric... Jun 2016Pilomatrixoma is a benign skin tumor, which is commonly found in the head and neck region. It usually presents as an isolated lesion and rarely undergoes malignant... (Review)
Review
INTRODUCTION
Pilomatrixoma is a benign skin tumor, which is commonly found in the head and neck region. It usually presents as an isolated lesion and rarely undergoes malignant transformation. It is not uncommon for these tumors to be misdiagnosed.
OBJECTIVE
To review the clinical characteristics of head and neck pilomatrixomas in the pediatric population.
METHODS
A systematic review was completed by searching ten databases to identify studies reporting findings on pilomatrixoma in the pediatric population. Eligible articles were independently assessed for quality by two authors.
RESULTS
A total of 17 studies met the inclusion criteria totaling 318 pediatric patients. The age of diagnosis ranged from 3 months to 17 years of age. The female to male ratio was 1.65:1. In 14 articles, in which pilomatrixoma was located in the head and neck region, 76 (25%) lesions were found in the neck while 229 (75%) were present in the head region. Three articles exclusively described ophthalmologic pilomatrixoma. Even though pilomatrixoma presents with classical features, the clinical diagnostic accuracy when confronting this lesion averaged 43%. The definitive treatment was surgical excision with a very low recurrence rate.
CONCLUSION
Head and neck pilomatrixoma in the pediatric population has a typical presentation with a low clinical diagnostic accuracy. Awareness of this lesion and its clinical appearance can improve its diagnosis. We hereby suggest a management algorithm for suspected pilomatrixoma.
Topics: Adolescent; Child; Child, Preschool; Hair Diseases; Head and Neck Neoplasms; Humans; Infant; Neoplasm Recurrence, Local; Pilomatrixoma; Skin Neoplasms
PubMed: 27240514
DOI: 10.1016/j.ijporl.2016.03.026 -
Ophthalmic Plastic and Reconstructive... 2020Pilomatrixoma, an uncommon, usually benign cutaneous appendageal tumor, shows differentiation toward the hair follicle matrix cell. It undergoes various histopathologic...
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. Immunohistochemistry in the current case showed transitional cell reactivity for β-catenin, probably linking the tumor to a mutation in the β-catenin gene CTNNB1. There was also transitional cell positivity for cyclin D1, a marker found in matrical cells of the human hair follicle. While pilomatrixoma occurs occasionally in the eyelid, the ossified eyelid variant in the current case is very rare, with only one preceding description in the literature.
Topics: Eyelids; Hair Diseases; Humans; Osteogenesis; Pilomatrixoma; Skin Neoplasms
PubMed: 32304502
DOI: 10.1097/IOP.0000000000001674 -
Archives of Otolaryngology--head & Neck... Nov 1998To describe the clinical presentations and discuss the guidelines for surgical management of pilomatrixoma involving the head and neck in children. (Review)
Review
OBJECTIVES
To describe the clinical presentations and discuss the guidelines for surgical management of pilomatrixoma involving the head and neck in children.
DESIGN
Retrospective study.
SETTING
A tertiary care center.
PATIENTS
Thirty-three patients, with a mean age of 4.5 years, underwent surgical treatment for pilomatrixoma (n = 38) between 1989 and 1997.
INTERVENTION
All patients were treated surgically. In 34 cases, a direct approach was used to achieve complete removal of the lesion with (n = 11) or without (n = 23) skin resection. In the remaining 4 cases, an indirect approach via a parotidectomylike incision was used.
RESULTS
In 88% of cases, the presenting symptom was a hard, slow-growing, subcutaneous tumor. The lesion was associated with pain and inflammation in 7 cases (18%) and abscess or ulceration in 4 cases (11%). Twenty-nine patients presented with single nodules and 4 presented with multiple occurrences. The lesions were located on the face (cheek, eyelid, or forehead) in 20 cases (53%), on the neck in 8 cases (21%), in the parotid region in 8 cases (21%), and on the scalp in 2 cases (5%).
CONCLUSIONS
Pilomatrixoma is a rare, benign skin tumor, but practitioners should be aware of its clinical features. Diagnosis is usually easy based on clinical findings, but computed tomographic scan is helpful, especially in cases involving tumors located in the parotid region. Spontaneous regression is never observed. Complete surgical excision, including the overlying skin, is the treatment of choice.
Topics: Adolescent; Child; Child, Preschool; Connective Tissue; Diagnostic Imaging; Female; Follow-Up Studies; Humans; Infant; Male; Otorhinolaryngologic Neoplasms; Pilomatrixoma
PubMed: 9821927
DOI: 10.1001/archotol.124.11.1239 -
Der Hautarzt; Zeitschrift Fur... Mar 2018A 31-year-old man developed a fast-growing tumor on the right upper arm within a black tattoo, which could be classified histologically as pilomatrixoma. While the...
A 31-year-old man developed a fast-growing tumor on the right upper arm within a black tattoo, which could be classified histologically as pilomatrixoma. While the age of the patient and the rapid growth of the tumor cannot be regarded as typical findings of pilomatrixomas, the localization on the upper arm is one of their predilection points. Despite the wide spread use of tattoos in the last few decades, tumor development in tattooed skin is rarely reported. It is still controversial whether the ingredients of the tattoo agents can be responsible for tumor induction.
Topics: Adult; Arm; Hair Diseases; Humans; Male; Pilomatrixoma; Skin; Skin Neoplasms; Tattooing
PubMed: 29138884
DOI: 10.1007/s00105-017-4083-4