Edit concept Question Editor Create issue ticket

Pilomatrixoma

Pilomatricoma

Pilomatrixoma is a benign tumor that develops in the dermis of the skin and originates from hair follicle cells. It commonly develops in young adults and children and has a tendency to calcify.


Presentation

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].

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]
  • Our hope is to increase awareness of this diagnosis for slow-growing soft tissue masses not located in the classically described locations of head and neck, explore the radiographic features on various imaging modalities, and review the current radiology[ncbi.nlm.nih.gov]
  • Pilomatrixomas are depicted on computerized tomography (CT) scans as soft tissue masses that may also contain calcifications.[symptoma.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]
  • tissue masses, pilomatrixoma may appear as a regularly contoured mass with homogeneous speckles and occasional dense foci of calcification. 13 Fink and Berkowitz 5 found ultrasound to be particularly helpful in children to determine the relation of the[jamanetwork.com]
Nightmare
  • […] it's when a blocked pore (I think) calcifies rather than just clearing; I do remember his saying 'calcifies for reasons we don't quite understand'. sneezecakesmum Thu 17-Feb-11 13:25:13 There has been recent cutbacks in cosmetic surgery and it is a nightmare[mumsnet.com]
Aspiration
  • OBJECTIVE: To review the cytologic features of pilomatrixoma to allow a definitive diagnosis at the time of aspiration and correct patient management.[ncbi.nlm.nih.gov]
  • The authors focus on clinical investigation, imaging methods and fine needle aspiration cytology of pilomatrixomas. METHODS: We treated 12 children with great salivary gland masses aged from 6 months to 18 years from 1995 to 2010.[ncbi.nlm.nih.gov]
  • Abstract A 50-year-old male with a painless progressively increasing lump of right breast, misdiagnosed on fine needle aspiration cytology as carcinoma breast, operated for modified radical mastectomy, is presented here.[ncbi.nlm.nih.gov]
  • The use of fine needle aspiration cytology (FNAC) and diagnostic imaging may help confirm the diagnosis. The correct treatment is surgical. However, should the tumour recur then the possibility of malignancy should be considered.[ncbi.nlm.nih.gov]
  • Aspirates from pilomatrixoma may be misinterpreted as squamous cell carcinoma.[annsaudimed.net]
Subcutaneous Mass
  • CT clearly demonstrated a well-defined, subcutaneous mass with amorphous calcifications. The mass showed intermediate signal intensity on T2*-weighted MR images and slight contrast uptake on contrast-enhanced MR images.[ncbi.nlm.nih.gov]
  • A 9-year-old boy had a subcutaneous mass on his left wrist. Ultrasound displayed a well-defined, multilobulated anechoic mass containing a few internal septa between the extensor pollicis longus and the extensor carpi radialis longus tendons.[ncbi.nlm.nih.gov]
  • The patient presented a rapidly growing 4-cm subcutaneous mass in the right preauricular area. She was free of recurrence 24 months after surgery.[ncbi.nlm.nih.gov]
  • Turk J Plast Surg 2018;26:125-7 Introduction Pilomatrixomas are benign subcutaneous masses that originate from the hair follicle. They are often seen in the first two decades, but they can occur at any age.[turkjplastsurg.org]
  • A pilomatrixoma is small, firm subcutaneous mass found under the skin. It most commonly presents as a single lump found on the face, scalp, eyelids, eyebrows, neck, or arms, but in some instances can be multiple in nature.[eyewiki.aao.org]
Normal Hair
  • These results suggest that in pilomatrixoma, production of hair keratin and induction of apoptosis may occur at the same time, and that unlike the normal hair follicle irregular expression of β-catenin and Lef-1 results in the appearance of amorphous[ncbi.nlm.nih.gov]
  • ., Ito, M. and Morohashi, M. (2005) Aberrantly Differentiated Cells in Benign Pilomatrixoma Reflect the Normal Hair Follicle: Immunohistochemical Analysis of Ca-Binding S100A2, S100A3 and S100A6 Proteins.[scirp.org]
  • Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. Br J Dermatol. 2001 Oct;145(4):576-81.[ghr.nlm.nih.gov]
  • Aberrantly differentiated cells in benign pilomatrixoma reflect the normal hair follicle: immunohistochemical analysis of Ca-binding S100A2, S100A3 and S100A6 proteins. Br J Dermatol . 2005 Feb. 152(2):314-20. [Medline] .[emedicine.medscape.com]
  • Aberrantly differentiated cells in benign pilomatrixoma reflect the normal hair follicle: immunohistochemical analysis of Ca-binding S100A2, S100A3 and S100A6 proteins. Br J Dermatol. 2005 Feb. 152(2):314-20. [Medline].[emedicine.medscape.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]
Suggestibility
  • In all these cases, outward appearances and imaging investigations suggested malignant tumours. Preoperative biopsies suggested that case 1 was a basal cell carcinoma, but cases 2 and 3 had no malignant features on biopsy.[ncbi.nlm.nih.gov]
  • These tumors may contain calcification, which, when present, is helpful in suggesting the diagnosis. We present a classic case of pilomatrixoma in the cheek of a young woman.[ncbi.nlm.nih.gov]
  • The initial clinical diagnosis suggested a malignant lesion or vascular tumor; excisional biopsy was performed. The eyelid crease was approached for incision and resection as for a blepharoplasty.[ncbi.nlm.nih.gov]
  • Sonographic findings suggested that the mass was a ganglion cyst. After excisional biopsy, histopathologic examination confirmed the diagnosis of pilomatrixoma. Copyright 2012 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • A diagnosis of small round cell tumor was suggested on fine-needle aspiration cytology. He underwent wide excision of the mass. On histomorphological examination, a diagnosis of aggressive PMX was made.[ncbi.nlm.nih.gov]
Aggressive Behavior
  • They can exhibit local aggressive behavior or distant metastasis. This malignancy can arise as a solitary lesion de novo or through transformation of a pilomatrixoma over a long period.[ncbi.nlm.nih.gov]
Facial Mass
  • In January 2004, a case was reported of an 8-year-old girl with 2 progressively enlarged facial masses. One of them was excised and diagnosed as pilomatrixoma. Coincidently, her 13-year-old sister had the same type of tumor when she was 4 years old.[ncbi.nlm.nih.gov]
Confusion
  • Diagnostic confusion was caused by atypical features of this pilomatrixoma that overlapped with infantile hemangioma: onset in infancy, ulceration, red color, and fast flow on imaging.[ncbi.nlm.nih.gov]
  • There are a number of cases in the literature that address this confusion in diagnosis.[turkjplastsurg.org]
  • Pilomatrixomas, as illustrated in our case, can add confusion to the management of a co-existing disease or injury. Histological examination is required for definitive diagnosis.[imj.ie]
  • The overlying skin changes described in many cases of pilomatricoma include bluish-red discoloration that may confuse the clinician for wrong interpretation of these tumors as hemangiomas. [4] Similarly, presence of tenderness in a firm subcutaneous swelling[e-ijd.org]
  • The eyelid is a common site of the disease, though it is very rare in the tarsal conjunctiva.The pilomatrixoma has clinical pleomorphism, which confuses this disease with other similar conditions.[scielo.br]
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]
Salpingitis
  • The cervix, salpinges, ovaries and pelvic lymph nodes were free of disease and, taking all evidence into account, the tumour was diagnosed as poorly differentiated endometrial endometrioid adenocarcinoma (FIGO stage IB).[ncbi.nlm.nih.gov]

Workup

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].

Treatment

  • The treatment of choice is surgical excision, and the recurrence rate is low.[ncbi.nlm.nih.gov]
  • These findings support the use of simple surgical excision as the treatment of choice for these tumors.[ncbi.nlm.nih.gov]
  • The treatment of this tumour remains mainly surgical. Malignant cases with post-surgical recurrences have been described in literature and recurrences have been related to an incomplete surgical treatment or tumour aggressiveness.[ncbi.nlm.nih.gov]
  • Treatment is aimed primarily at excision if the lesion is symptomatic or suspicious for malignancy. The authors present a case of a 73-year-old male who presented to the diabetic foot center with this condition.[ncbi.nlm.nih.gov]
  • Presenting signs and symptoms, lesion characteristics, and treatment rendered are described.[ncbi.nlm.nih.gov]

Prognosis

  • , 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]

Etiology

  • There is no known distinct etiologic factor or predisposing condition for this kind of malignancy.[ncbi.nlm.nih.gov]
  • Pilomatrixoma is a rare skin neoplasm which is usually localized on face, neck and lower extremites and its etiology is still unknown. We report a case of a 32-year-old male patient with a rare localisation of pilomatrixoma on the right shoulder.[ncbi.nlm.nih.gov]
  • OBJECTIVE: To provide a review of the current information on the etiology, clinical presentation, management, and outcome of pilomatrixoma of the head and neck in children. DESIGN: Retrospective review. SETTING: A tertiary care pediatric center.[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]

Epidemiology

  • 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]
  • Epidemiology Pilomatricoma accounts to 20 % of all hair follicle related tumors in most series. Therefore, it can be considered as commonest hair follicle tumor.[atlasgeneticsoncology.org]
  • Epidemiology Frequency United States Pilomatrixomas have long been considered uncommon cutaneous tumors; however, they may be more common than is realized, especially in children and young adults.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • 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.[dermatologyadvisor.com]

Prevention

  • 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]
  • 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]
  • Complete removal is curative, although it does not prevent the appearance of new lesions.[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]

References

Article

  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.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2019-07-11 22:08