-
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 -
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 -
Italian Journal of Dermatology and... Aug 2023Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in CREBBP and EP300 genes in... (Review)
Review
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in CREBBP and EP300 genes in approximately 60% and 10% respectively. These genes encode two highly evolutionarily conserved, ubiquitously expressed, and homologous lysine-acetyltransferases, that are involved in number of basic cellular activities, such as DNA repair, cell proliferation, growth, differentiation, apoptosis of cells, and tumor suppression. It is mainly characterized by global developmental delay, moderate to severe intellectual disability, postnatal retardation, microcephaly, skeletal anomalies including broad/short, angled thumbs and/or large first toes, short stature, and dysmorphic facial features. There is an increased risk to develop tumors mainly meningiomas and pilomatrixomas, without a clear genotype-phenotype correlation. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with this entity. Both susceptibility to the formation of keloids and pilomatricomas are the most often associated cutaneous features. In this review, we discuss the genetics, diagnosis, and clinical features in Rubinstein-Taybi Syndrome with a review of the major dermatological manifestations.
Topics: Humans; Rubinstein-Taybi Syndrome; Mutation; Intellectual Disability; Genetic Association Studies; Pilomatrixoma; Skin Neoplasms
PubMed: 37282850
DOI: 10.23736/S2784-8671.23.07547-3 -
Indian Dermatology Online Journal 2023
PubMed: 37266091
DOI: 10.4103/idoj.idoj_376_21 -
Ocular Oncology and Pathology Feb 2022Pilomatrixoma is a relatively rare, benign tumor arising from the hair root matrix. It is found frequently on the head and neck, with most involving the eyebrow in the...
INTRODUCTION
Pilomatrixoma is a relatively rare, benign tumor arising from the hair root matrix. It is found frequently on the head and neck, with most involving the eyebrow in the periocular region. In contrast, eyelid pilomatrixoma is less common, and often clinically misdiagnosed. Here, we present clinical and histological data from 19 pilomatrixomas arising in the eyelid.
METHODS
The study represents a retrospective study of eyelid pilomatrixoma diagnosed at our institution since 1981. All slides were reviewed, and demographic as well as clinical data were obtained.
RESULTS
Patient ages ranged from 2 to 63 years (mean 24 years), including 12 (63%) females and 7 (37%) males. Eight (42%) and 4 (21%) cases arose in the first and second decades of life, respectively. Upper eyelid involvement was found in 14 (74%) of cases. Microscopically, the tumors were characterized by basaloid and shadow cells accompanied by calcification and foreign body giant cells.
CONCLUSIONS
Eyelid pilomatrixoma is rarely suspected clinically, and can be mistaken for cyst, chalazion, sebaceous carcinoma, and other tumors. Physicians should consider the possibility of pilomatrixoma in the eyelid area, especially in children or young female patients. Complete excision is curative, and diagnosis can generally be established by histopathological examination.
PubMed: 35356601
DOI: 10.1159/000520219 -
Ear, Nose, & Throat Journal Jan 2012
Topics: Hair Diseases; Humans; Pilomatrixoma; Skin Neoplasms
PubMed: 22278863
DOI: 10.1177/014556131209100106 -
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 -
Journal of Cytology 2023Pilomatrixoma (PMX) is a relatively uncommon benign cutaneous neoplasm arising from skin adnexa. It presents as a subcutaneous asymptomatic nodule mostly in the head and...
BACKGROUND
Pilomatrixoma (PMX) is a relatively uncommon benign cutaneous neoplasm arising from skin adnexa. It presents as a subcutaneous asymptomatic nodule mostly in the head and neck region and is frequently misdiagnosed by the clinicians. Although easily diagnosed on histopathology, the cytologic features of PMX are less distinctive, depending on the stage and evolution of disease and may mimic other benign or even malignant lesions.
AIM
To study the cyto-morphological features of this uncommon neoplasm and identify its potential diagnostic pitfalls on fine needle aspiration cytology (FNAC).
MATERIAL AND METHODS
Archival records of histopathologically diagnosed Pilomatrixoma were analyzed during study period of 2.5 years. Clinical diagnosis, preoperative FNA characteristics, and histopathological details were studied in each case. Cytologic pitfalls resulting in misdiagnosis of PMX cases on FNAC were evaluated in discordant cases.
RESULTS
The series showed male preponderance, with head and neck being the commonest site. Out of 21 histopathologically proven cases of PMX, cytological correlation was available in 18 cases. A correct cytologic diagnosis of PMX/adnexal tumor was rendered in 13 cases. Erroneous diagnosis was given in 5 cases mainly because of the predominance of one component over the other or non-representative-aspirated material.
CONCLUSION
The present study highlights the importance of careful screening of FNAC smears keeping in mind the variability in the relevant cytologic features of PMX and creates awareness about the lesions that can mimic Pilomatrixoma resulting in diagnostic dilemma.
PubMed: 37388396
DOI: 10.4103/joc.joc_122_21