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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 -
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 -
Acta Medica (Hradec Kralove) 2023Pilomatricoma, also known as Pilamatrixoma or Malherbe's calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and...
Pilomatricoma, also known as Pilamatrixoma or Malherbe's calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and elderly age groups. Although it was previously thought to be rare, recent studies have revealed that it is quite common. Typically, pilomatricoma is diagnosed following histopathological examination of the lesion as it is frequently misdiagnosed with other types of skin pathology. In our case, the child presented with painless swelling of the left infraauricular region. The initial cytology and imaging were unable to provide a definite diagnosis. An excision biopsy was done, and a histopathological examination was suggestive of Pilomatricoma. Therefore, Pilomatricoma ought to be considered in the differential diagnosis of head and neck lesions in hopes of providing a better understanding on this pathological lesion.
Topics: Humans; Child; Aged; Pilomatrixoma; Hair Diseases; Biopsy; Skin Neoplasms; Diagnostic Errors
PubMed: 38588394
DOI: 10.14712/18059694.2024.11 -
Cureus Jan 2022Pilomatrixoma is a benign skin tumor that originates from the hair matrix. It usually appears in children and young adults and is preferably in the head and neck region....
Pilomatrixoma is a benign skin tumor that originates from the hair matrix. It usually appears in children and young adults and is preferably in the head and neck region. It clinically presents as an asymptomatic firm, solitary subcutaneous mass of less than 3 cm. When located in the preauricular area, it is often misdiagnosed as benign or malignant parotids, skin tumors, or sebaceous cysts. Its treatment of choice is surgery, and recurrence is due to incomplete excision. We present a case of a male referred to our hospital with a diagnosis of recurrent pilomatrixoma in its giant form. The lesion was fully excised with no signs of recurrence and no functional impairment.
PubMed: 35070581
DOI: 10.7759/cureus.21308 -
Cureus Dec 2022Pilomatrixoma, or calcifying epithelioma of Malherbe, is a benign tumor with differentiation toward the hair matrix cells and is one of childhood's most common...
Pilomatrixoma, or calcifying epithelioma of Malherbe, is a benign tumor with differentiation toward the hair matrix cells and is one of childhood's most common epithelial tumors. Bullous pilomatrixoma has an extremely low incidence of occurrence, usually appears in the upper extremities, and is frequently associated with trauma. We report the case of a bullous pilomatrixoma in a patient with a rapid-growing neoformation one month after receiving a coronavirus disease 2019 (COVID-19) vaccine in his left upper arm, and we discuss whether the bullous appearance is part of the biology of the tumor or a secondary anetoderma.
PubMed: 36636528
DOI: 10.7759/cureus.32370 -
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