Tony Nakhla, DO; Michael Kassardjian, DO
infiltrative-appearing spindle cells, which confirmed
that these were epithelial, and not mesenchymal,
ceiis R.esults of s...
Figure 2. A fragrnentedbiopsy specimenrevealed
basaloidproliferationand ghost cells(H&E,original
ghostcells,alongwith zonesof necrosiswith surround-
ing stromaldesmoplasiaalsoareobserved.The basaloid
PrlouATRrcAL CnncrNoMA
extendinto the subcutaneousfat, deepfascia,and skel-
etal.muscle.In pilomatricalcarcinoma,the shado...
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Pilomatrical Carcinoma: A Case Report by Dr. Tony Nakhla of OC Skin Institute


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OC Skin Institute's Dr. Tony Nakhla, an expert in the medical dermatology field, reviews facts concerning Pilomatrical Carcinoma and refers to further details obtained from a case study. Dr. Nakhla now runs his own practice in Orange County California, where he provides treatments for all dermatological needs, including acne, skin cancer detection, mole & wart removal, and skin allergy testing.

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Pilomatrical Carcinoma: A Case Report by Dr. Tony Nakhla of OC Skin Institute

  1. 1. PilomatricaICarcinoma: CaseReportandReviewof theLiterature Tony Nakhla, DO; Michael Kassardjian, DO Pilomatricalcarcinomaisa raremalignanttumorthatoriginatesfromhairmatrixcells.Pilomatrical carcinomamay arisede novo as a solitarylesion,or throughtransformationfrom its benign counterpart,pilomatrixoma.Differentiationbetweenpilomatrixomaand pilomatricalcarcinoma requiresclosehistologicexaminationand often is difficult.Althoughuncommon,pilomatrical carcinomahasthe potentialto metastasize;therefore,promptdiagnosisandappropriatemanage- mentisessential. ilomatrical carcinoma is the malignant counterpart of pilomatrixoma, a benign cutaneous tumor originating from the hair ma[rix. It is a rare, aggressivetumor with a high probability of recurrence after simple excision, and the potential to metastasrze. We report a case of a 56-year-old white man diagnosed with pilomatrical carcinoma. The patient presented with a 2-month history of ar1 enlarging asymptomatic growth on the cheek. Physical exami- nation revealed a 2-cm, well-demarcated, nontender, moveable, hard subcutaneous nodule on the right mandible (Figure l). No skin changes or lymphad- enopathy was noted. The clinical diagnosis strongly favored a calcified epidermoid cyst or other benign adnexal tumor. An excisional biopsy was performed at the request of the patient. Sections were evaluated histologically and revealed a multifragmented biopsy of dermal and subcutaneous tissue containing basaloid proliferation with collections of ghost cells, typical of pilomatrixoma (Figure 2). Dr. I'laLthlais from OC Shin Institute, Santa Ana, California. Dr. Kassardlianisan intern,PacificHospital,LongBeach,California. The authors report no conflict tf interest in relation to thisarticle. Correspondence:Michael Kassardjian,DO, PO Box 2152, PalosVerdesPen,CA 90275(miheygh@gmail.com). 3I4 CosmeticDermatology@. JULY2010. vol. 23No.7 In som e areas,the lesional cells are relatively bland and noninfiltrative appearirg. However, this case also shorvs areaswith larger more squamoid appearing cells urth aLyprcalfeatures, includ- irg Iargenuclei with prominent nucleoli aswell as areasof infiltrative appearing cells, features highly concerning for malignancy (Figure 3). In the infiltrative appearrngarea, there is dense stromal sclerosis associated u-ith highly atyprcal squamoid and spindle cells, with ser-eralmitotic figures found within these cells (Figure +) In many areas of the biopsy, there is granulomatolls inflamma- tion, hemorrhage , and granulation tissue consistent with a reaction to ruptured material from the tumor (Figure 5) While the latter findings often are seen in ruptured pilomatrixoma, the infiltratn-e areas with atyprcal spindle cells would not be erpected in a benign pilomatrixoma, and the findings are most con- sistent with a diagnosis of malignant pliomarrixoma (pilom afitcal carcinoma) . Multiple laboratory tests using immunohrstochemi- cal stains, including p63, cytokeratrn i/6, synap- tophysin, p53, and Ki-67 also -ere rer-iewed. The tumor cells were strongly and diffusely- positive for p63, highlighting the nuclei of the infiltrative and spindle cells, which is positirre in mos[ primary cuta- neous malignancies including adnexal carcinomas. In addition, results of cytokeratin 5/6 staining aiso were moderately positive within lesional cells, including the www.cosderm.com
  2. 2. infiltrative-appearing spindle cells, which confirmed that these were epithelial, and not mesenchymal, ceiis R.esults of synaptophysin staining were nega- [l-e and not consistent with a neuroendocrine tumor such as ierkel cell carcinoma. Staining for p53 was r.,'eakirb'-ri difiusely positive throughout the tumor cell nuclei. rnc^'-rd.rnEthe infiltrative areas, a finding that also far-ored :rahgnancy. In addition, Ki-67 positivity was high u ithrn thre basaloid cells and also positive within man c[ rhe spindle cells, highlighting up to L}o/oof the entrre lesion. Thus, the overall histologic and immunohistochemical findings supported the diagnosis of pilomalncal carcinoma. COMMENT Pilomatrixoma first -asdescribed in 1BB0 by Malherbe and Chenantaisr as a calci.it'tngepithelioma that was thought to originate from the sebaceous gland. In L949, Lever and Griesemerr suggested that the actual origin of the tumor was the harr matrix.3 Thus, the approprlaLe term pilomatrtxonta was adopted, synony- mous with calcifying epithehoma of Malherbe, which also is commonly used. Clinically, the tumor is described as a solitary, slow growing, asymptomatic, dermai or subcutaneous mass that mosl commonly is found in the posterior neck, upper back, and preauricular area.Duration of tumors prior to surgery has been reported to range from 4 months to 10 years.3 Pilomatrical carcinomas have been reported to range in size from 0.5 cm to 20 cffi, with a mean of 3.95 cm, which is slightly larger than its benign counterpart, pilomatrixoma.a The consistency www.cosderm.com Figure 1. A 56-year-oldwhite man with a 2-cm, well-demarcated,nontender, move- able,hard subcutaneousnodule presenton the right mandiblewith no skinchanges. of the tumors may vary from soft and friable to firm. They may have red, yellow, white, and tan skin changes. Lesions cannot reliably be distinguished based solely on clinical appearance, and frequently are mistaken for epidermal cysts. The diagnosis of pilomatrical malignancyis made exclusivelyby careful histologicevaluation. Pilomatricalcarcinomahasa potentialto metastasrze in about 10o/oof cases.5Casesof metastasisto the lung, bones, and lymphatics, ds well as invasion into the cranialvault, havebeenreported.3 EPIDEMIOLOGY The epidemiology of pilomatrical carcinoma differs from pilomatrixomas. Pilomatrixomas more often are seen in women (female to male ratio of 3: I ) and tend to occur in patients younger than 20 years. The mean age of patients diagnosed with pilomatrixoma is B.7 years, rangirg from B months to 19 years.5 Pilomatrixomas occur most commonly on the head, followed by the upper extremities, neck, trunk, and lower extremities.3 Involvement of the face has been reported in the frontal, temporal, cheek, periorbital, and preauricular regions.6Pilomatrical carcinomas are more predominant in men and more often middle- aged or elderly adults. The mean age of patients with pilomat.rical carcinoma is 48 years, ranging from 2 to BB years, and in this population are more common in the posterior neck, upper back, and preauricu- lar area.3'4Approximately 60o/o of tumors have been located on the head, among which half are in the preauricular region.T vol. 23 No. 7 . JULv2010. Cosmetic Dermatology@ 315
  3. 3. PnouATRIcnr CaRcINoMA Figure 2. A fragrnentedbiopsy specimenrevealed basaloidproliferationand ghost cells(H&E,original magnificationx 100). Figure3. Infiltrativesquamoid and spindle cells with atypical features, including large nuclei with prominent nucleoli (H&E,original magnifica- tion x400). HISTOPATHOLOGY The histologic differential diagnosis of pilomatrical carcinoma includes pilomatrixoma, squamous cell carcinoffi?, trichoepithelioma, ly-phoepitheliomalike 316 CosmeticDermatology@. JULY2010. vot-.23No.7 carcinoma of the skin, and mixed tumors of the skin.7 Pilomatrical carcinomas have the characteristic features of epithelial islands of pleomorphic basaloid cells with vesicular nuclei and prominent nucleoli. Shadow or www.cosderm.com
  4. 4. l ghostcells,alongwith zonesof necrosiswith surround- ing stromaldesmoplasiaalsoareobserved.The basaloid cellshavedeeplybasophilicoval or round nuclei and are found at the periphery of the islands.A transition zorae www.cosderm.com PnouATRrcAL CARCTNoMA Figure4. Stromalsclerosis,highly atypicalsqua- moidand spindlecells,and severalmitoticfigures (H&E,originalmagnificationX400). Figure5. Areasof hemorrhageandgranulationtis- suesurroundedby infiltrativeatypicalspindlecells (H&E,originalmagnificationX400). of retainednuclei from basaloidcells to the anucleate, eosinophilicshadowcellsoften is seen.8Tumor necrosis usually is present, as well as frequent atypical mitotic figures.Basaloidcellsmayinfiltrate the entiredermisand VOL.23 NO. 7 . JULY2010. Cosmetic Dermatology@ 317
  5. 5. PrlouATRrcAL CnncrNoMA extendinto the subcutaneousfat, deepfascia,and skel- etal.muscle.In pilomatricalcarcinoma,the shadowcells tend to form a nestedpattern, insteadof the flat sheet- like patternusuallyobservedin benignpilomatrixomas.3 Histologic criteria for pilomatrical carcinoma include vesselinvasion,mitotic index, apoptoticcount,aswell as molecularmarkersof cell deathand adhesion.e IMMUNOHISTOCHEMISTRY Immunohistochemical studies have not d.finirively distinguished the markers that differentiate piloma- trixomas from pilomatrical carcinomas . Lazar et alI0 studied a series of 15 pilomatrical carcinomas and 13 benign pilomatrixomas to assess expression of B,-catenin using immunohistochemical staining and DNA sequencing of exon 3 from the Bl-catenin gene, CTNNBI, the defect that leads to the expression of pilomatrixomas. B-Catenin is a downstream effector in the Wnt signaling pathway that signals for proliferarion and differentiation. Mutations in the CTNNBI gene encoding B-catenin are present in both benign and malignant neoplasms. A11cases showed nuclear local- tzatton of B-catenin, mutations on exon 3, as well as expression of nuclear cyclin D 1. Howev er, 2 pilomatri- caI carcinomas exhibited accumulation of p53, which was absent in aIL 13 benign pilomatrixomas. I0 Past studies also have reported high constant expression of CD44v6 and P-cadherin. 11 TREATMENT The most widely reported treatment for pilomatrical carcinoma is wide local excision with histologically confirmed clear margins. Becausepilomatrtcal carcinoma is identifiable by hematoxylin and eosin srain, Mohs micrographic surgery also is an excellent treatment option. Currently, there is no consensus on surgical man- agement, and standard excisional margins have not been defined.s Adjuvant radiation therapy may be necessary postexcision. Chemotherapy has been used in cases of extensive tumor invasion and in casesof metastasis. Appropriate Iaboratory testing includes liver func- tion tests, calcium levels, and chest x-ray examination. If aggressivelocal invasion is suspected, a computed tomography scan or magnetic resonance imaging should be performed to define tumor extension.T Past studies have found that the radiologic findings of pilo- matrixoma typically demonstrate a well-circumscribed lesion with homogeneous or sandlike calcifications on plain radiograph and computed tomography studies.12 Niwa et aIa reported a case of pilomatrical carcinoma of the axilla, which demonstrated a diffuse inhomoge- neous mass with cystic changes on magnetic resonance rmaging. Areas of low signal intensity corresponded to 318 CosmeticDermatology@. JULv2010. vol. 23No.Z calcifications, while the inhomogeneous signal intensi- ties related to varying degrees of tumor proliferation. High signal intensity was atrributable ro cysric spaces forming in areasof tumor necrosis Pilomatrical carcinoma is a rare malignant form of pilomatrixoma, which arises from hair matrix cells. Careful histologic evaluation is necessary to distinguish benign pilomarrixoma from pilomarri- cal carcinoma. Pilomatrical carcinoma rnay arise de novo or from a preexisting benign pilomatrixoma, which may be clinically indistinguishable. In cases where previously excised or curetted pilomatrixomas recur, a reexcision with careful histologic evaluation is indi cated.T Pilomatrical carcinoma occurs more often in middle- aged to older individuals, more commonly in men, and has a predilection for the posterior neck, upper back, and preauricular area. Pilomatrical carcinomas frequently recur; however, treatment with wide local excision or Mohs micrographic surgery has been shown to lower the raLeof recurrence.4,5 Distant metastaseshave been reported in up to l0o/o of cases.5Due to the potential for metastasis, prompt diagnosis followed by wide local excision or Mohs micrographic surgerl- and close clinical and radiologic follow-up is recommended. REFERENCES 1. Malherbe A, ChenantaisJ. ore sur lepirheliome calcifie des glandessebaces.ProgJIed LSS0:325-837. 2. Lever Wf; Griesemer RD. Calficnng epithelioma of Malherbe; report of 15 cases,riith ccT-nrnenison its differentiationfrom cal- cified epidermal cyst anC on iis histogenesis.Arch Derm Syphilol. L949;59:506-518. 3. sau B Lupton GB Graham JH. Pilomatrix carcinoma. cancer. L993:7L:249L-2498. 4. Niwa T, YoshidaT. Doiuchi T, et al. Pilomatrix carcinomaof the axtlla CT and MRI features.BrJ Radiol.20a5;78:257-260. 5. ScheinfeldN. Pilomatricalcarcinoma:a casein a patient with HIV and hepatitisC. DermatolOnlineJ. 2008;L4:4. 6. YenchaMW Head and neck pilomatricoma in the pediatric age group: a retrospectivestudy and literature review. Int J Pediatr Otorhinolaryngol.200I ;57'.123-L28. 7. BarbosaA, Guimaraes N, Sadigursky M. Pilomatrix carcinoma (malignant pilomatricoma): a casereport and revlew of literature. AnatsBrasileiros deDermatologia. 2000;75:5BI -5B5. B. SassmannshausenJ, Chaffins M. Pilomatrix carcinoma:a repori of a casearising from a previously excised pilomatrixoma and a review of the literature.J Am Acad Dermatol.2001;44(suppl2). 358-36r. 9. omidi AA, Bagheri R, Tavassollan H. Pilomatrix carcinoma with subsequentpulmonary metastases:a casereport. Tanaffos. 20065:57-60. 10. Lazar AJ, Calonje E, GraysonW Pilomatrix carcinomascontain mutations in CTlNBl, the gene encoding beta-catenin.J Cutan Pathol.2005;32:I 48-L57. I l. BassarovaA,,NeslandJM, SedloevT, et al. Pilomatrix carcinoma with lymph node metastes.J CutanPathol.2004;3I:330-335. 12. De BeuckeleerLH, De SchepperAM, NeetensI. Magnetic reso- nanceimaging of pilomatricoma. Eur Radiol.1996;6.72-60, I www.cosderm.com