Pilomatrixomas are rare, slow-growing tumors that derive from hair follicle cells, which are ectodermal in origin. They develop in the lower dermis, present as irregularly shaped, firm growths that are tethered to the overlying skin but are not, however, attached to the underlying tissue. They often cause a blue or red discoloration on the skin but are otherwise non-tender [1]. Moreover, pilomatrixomas have the ability to calcify or ossify.

They most frequently occur within the first decade of life and affect females more than males [2]. Furthermore, they are usually found in the head and neck region, but have also been reported in the upper extremities. Typically, pilomatrixomas are solitary, yet multiple growths can occur simultaneously. The occurrence of the latter may be linked to various conditions, exemplified by sarcoidosis, Gardner syndrome, and myotonic dystrophy [3].

An even rarer type of tumor is the malignant form of pilomatrixomas, that is, pilomatrix carcinoma. These may present in a similar manner to pilomatrixomas, but are distinguished by their rapid growth, and involvement of the hematologic and lymphatic systems [4]. They have a tendency to recur and sometimes metastasize.

The diagnosis of pilomatrixoma is often missed, with the correct identification of the mass being less than 30% pre-operatively [5]. The reason for the high diagnostic inaccuracy may be a combination of the rarity of the tumor, its similarity to other superficial masses such as dermoid cysts, lipomas, foreign bodies and branchial cleft cysts, and atypical features such as an uncommon location [6].

• Inguinal Lymphadenopathy

  On physical examination, the lesion was not fixed to the underlying bone and no inguinal lymphadenopathy was detected. Fine-needle aspiration was performed using a 22-gauge needle. [ijtrichology.com]

• Soft Tissue Mass

  A giant pilomatrixoma should also be considered for paediatric patients presenting with a large subcutaneous soft-tissue mass. [ncbi.nlm.nih.gov]

  Pilomatrixomas are depicted on computerized tomography (CT) scans as soft tissue masses that may also contain calcifications. [symptoma.com]

  The sonograms were retrospectively reviewed by two radiologists with more than 10 years of experience of US of soft tissue masses. The lesions were subdivided into calcified and noncalcified masses. [onlinelibrary.wiley.com]

  MRI indicated a solid soft tissue mass in the posterolateral side of the left cruris, which was observed to be hypointense in the T1A series, and hyperintense in the T2A series. [academic.oup.com]

• Skin Discoloration

  On the physical examination, the bluish skin discoloration over the lesion so typical of PMT was overlooked. On FNA, the basaloid cells of PMT were mistaken for intermediate cells of mucoepidermoid carcinoma. [ncbi.nlm.nih.gov]

  Also, its irregular consistency, firm shape, and overlying skin discoloration are suggestive of its nature. The tumor is usually asymptomatic and grows slowly over a period of several months or years. [doi.org]

• Head and Neck Swelling

  Awareness regarding the inclusion of dermal appendage diseases is very important while establishing the differential diagnosis for chronic, painless head and neck swellings. References 1. Curran RC, Crocker J. Skin. [jscisociety.com]

• Neglect

  […] classification schemes of adnexal tumours are predominantly based on morphological and immunophenotypical similarities to adult skin structures, whereas a link between the embryology of the skin and the histogenesis of adnexal tumours has been largely neglected [ncbi.nlm.nih.gov]

  Therefore, it might be neglected in some cases. However, fast growth [ 3 ] and potential malignant transformation [ 4 ] have been reported in this benign tumor. The pilomatrixoma should be kept in mind in differential diagnosis of solid tumor. [alliedacademies.org]

The diagnosis of pilomatrixomas can be made based on clinical findings alone. The tent sign can be elicited and allows visualization of the irregularity of the mass. There is no development of lymphadenopathy. The modal location of tumors is the periorbital area, and a minority of cases are preceded by a history of trauma.

Histologically, pilomatrixomas are well circumscribed and surrounded by connective tissue. They consist of groups of metrical cells with cystic changes and central degeneration caused by ghost cells which lack a nucleus and are not exclusively found in pilomatrixomas [7]. Inflammation may be present in the surrounding tissue. Calcification occurs in the majority of tumors, whilst other changes that can occur include a local build-up of keratin, and foreign body granulomas [6].

Imaging studies are not routinely required. If X-rays are carried out, there may be visible calcifications. Pilomatrixomas are depicted on computerized tomography (CT) scans as soft tissue masses that may also contain calcifications. Magnetic resonance imaging (MRI) reveals ring-enhancing lesions, while ultrasonography may reveal peripherally hyperechoic masses with acoustic shadowing visible in the subcutaneous tissue [8].

Fine needle aspiration cytology (FNAC) remains the most accurate diagnostic test, although it also has a high margin of error [7]. On FNAC, basaloid and ghost cells are indicative of pilomatrixomas [9].

• Foam Cell

  Cells within the cluster show mild pleomorphism and overlapping. A giant cell, few foam cells, naked nuclei and scant inflammatory infiltrate is also seen and three dimensional clusters of basaloid cells (inset) (Giemsa, ×100, ×400). [cytojournal.com]

The treatment of choice is surgical excision, and the recurrence rate is low. [ncbi.nlm.nih.gov]

Treatments Treatments Treatment of pilomatrixoma Specific treatment of pilomatrixoma will be determined by your child's doctor based on: Your child's age, overall health, and medical history Extent of the condition Your child's tolerance for specific [childrensnational.org]

In a majority of cases, no treatment may be necessary for solitary tumors. A simple surgical excision of the tumor is considered curative The prognosis for Pilomatricoma is excellent with suitable treatment. [dovemed.com]

Pilomatrixoma Treatment After properly diagnosing pilomatrixoma and whether it is benign or malignant treatment can start. [healthool.com]

diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

Prognosis Prognosis after surgical removal is excellent, but reports have shown a very low recurrence rate in some cases. Patients and their family should be aware that any new lesions should be evaluated appropriately. [eyewiki.aao.org]

Pilomatrixoma Prognosis The prognosis in Pilomatrixoma tumors is generally very successful. Surgery does not give rise to any adverse outcomes and there is rarely any complication, unless there is malignancy involved. [primehealthchannel.com]

There is no known distinct etiologic factor or predisposing condition for this kind of malignancy. [ncbi.nlm.nih.gov]

Pilomatrical carcinoma Matrical carcinoma Malignant pilomatrixoma Pilomatrix carcinoma Definitions Pilomatrixoma Benign dermal &/or subcutaneous tumor Derived from matrical portion of hair follicle Pilomatrical carcinoma Malignant counterpart of pilomatrixoma ETIOLOGY [basicmedicalkey.com]

The objective of this study is to provide information on the etiology, clinical presentation, management, and outcome of pilomatrixoma of the head and neck in children. [jamanetwork.com]

Although it is well known that injury and infection can play an important role in the etiology, its exact etiology still remains to be elucidated. [lupinepublishers.com]

The findings of the current case series, which is one of the largest published thus far in the ophthalmic literature, are in concordance with the other series of pilomatrixoma, confirming the epidemiologic, clinical, and histopathological features of [ncbi.nlm.nih.gov]

[…] pilomatrical carcinomas CTNNB1 gene encodes β-catenin Genetics Rare cases are associated with myotonic dystrophy and Rubinstein-Taybi syndrome Usually multiple pilomatrixomas present Cysts of Gardner syndrome can show pilomatricoma-like changes CLINICAL ISSUES Epidemiology [basicmedicalkey.com]

In this study, we discuss the epidemiology of the tumor, clinical and histopathological findings, differential diagnosis and treatment outcome of pilomatrixoma in the light of our experiences with 20 cases. [go.gale.com]

Epidemiology Pilomatrikoma meets more often at children's and youthful age. Family cases are occasionally observed. [infomeds.net]

A small percentage (3.9%) of cases are caused by an external insult such as trauma, insect bites, or surgery. [4] [5] [6] Epidemiology Pilomatrixomas are most common in the pediatric population and occur on the head and neck. [statpearls.com]

We demonstrate associations that are consistent with the proposed pathophysiology of pilomatrixoma. Surgical excision is curative. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved. [ncbi.nlm.nih.gov]

Pilomatrixoma Pathophysiology One study which included individuals suffering from pilomatrixoma confirmed that the tumor is strongly related to very positive BCL2. [ic.steadyhealth.com]

Pathophysiology Histologically, the cells in pilomatricomas resemble hair follicle matrix cells. [neurologyadvisor.com]

Prevention & Risk Assessment Prevention & Risk Assessment What causes pilomatrixoma? Pilomatrixomas develop from an abnormal formation of cells that are similar to hair cells, which become hardened or calcified. [childrensnational.org]

Oral prednisolone was administered and slowly tapered to manage the possible remnant lesion and to prevent disease recurrence. Two years after initiating therapy, there was no evidence of relapse. [ncbi.nlm.nih.gov]

[…] to an underlying genetic disorder is dependent upon the severity of the disorder Please find comprehensive information on Pilomatricoma regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention [dovemed.com]

Primary prevention There is no primary prevention. Diagnosis is often difficult to make clinically, and therefore can only be definitively established after histopathological examination of the lesion after surgical removal. [eyewiki.aao.org]

1. Roche NA, Monstrey SJ, Matton GE. Pilomatricoma in children: Common but often misdiagnosed. Acta Chir Belg. 2010;110(2):250-254.
2. Pirouzmanesh A, Reinisch JF, Gonzalez-Gomez I, Smith EM, Meara JG. Pilomatrixoma: A review of 346 cases. Plast Reconstr Surg. 2003;112(7):1784-1789.
3. Urvoy M, Legall F, Toulemont PJ, Chevrant-Breton J. Multiple pilomatricoma. Apropos of a case. J Fr Ophtalmol. 1996;19(6-7):464-466.
4. Dutta R, Boadle R, Ng T. Pilomatrix carcinoma: case report and review of the literature. Pathology. 2001;33(2):248-251.
5. Julian CG, Bowers PW. A clinical review of 209 pilomatricomas. J Am Acad Dermatol. 1998;39(2 Pt 1):191-195.
6. Yencha MW. Head and neck pilomatricoma in the pediatric age group: a retrospective study and literature review. Int J Pediatr Otorhinolaryngol. 2001;57(2):123-128.
7. Wang J, Cobb CJ, Martin SE, Venegas R, Wu N, Greaves TS. Pilomatrixoma: clinicopathologic study of 51 cases with emphasis on cytologic features. Diagn Cytopathol. 2002;27(3):167-172.
8. Hwang JY, Lee SW, Lee SM. The common ultrasonographic features of pilomatricoma. J Ultrasound Med. 2005;24(10):1397–1402.
9. Agarwal RP, Handler SD, Matthews MR, Carpentieri D. Pilomatrixoma of the head and neck in children. Otolaryngol Head Neck Surg. 2001;125(5):510-515.