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and a large number of tortuous vessels in the stalk &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; The tumor was excised and the defect reconstructed with a Dufourmentel flap&#46; Histopathology revealed the presence of lobules of basaloid cells showing maturation toward the surface&#44; the formation of cells with abundant eosinophilic cytoplasm&#44; sheets of eosinophilic keratinous debris&#44; and pilar keratinization&#46; The lobules were surrounded by a fibrous stroma with mononuclear&#44; histiocytic inflammatory infiltrate and foreign body-type multinucleated giant cells&#46; Numerous foci of dystrophic calcification were observed&#46; These findings were consistent with a diagnosis of giant pilomatrixoma with foreign-body giant-cell reaction &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; The patient progressed favorably and there was no recurrence after 1 year of follow-up&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Pilomatrixoma is a benign adnexal tumor with differentiation towards hair matrix cells&#44; and is most common in children and those over 60&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Although the etiology of this tumor is unknown&#44; in 75&#37; of cases a mutation has been identified in <span class="elsevierStyleItalic">CTNNB1</span>&#44; the gene encoding beta-catenin&#44; a signaling protein involved in hair follicle development&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Pilomatrixomas are slow-growing nodules measuring 1 to 1&#46;5<span class="elsevierStyleHsp" style=""></span>cm across&#59; they frequently calcify&#44; giving rise to bluish discoloration of the overlying skin&#44; which may extrude calcific material&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Nodules can be multiple or solitary&#46; Solitary tumors have been described in genetic syndromes such as Turner syndrome&#44; Sotos syndrome&#44; myotonic dystrophy&#44; Rubinstein-Taybi syndrome&#44; Gardner syndrome&#44; trisomy 9&#44; basal cell nevus syndrome&#44; and xeroderma pigmentosum&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Multiple pilomatrixomas have been reported in healthy patients&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Other clinicopathologic variants have also been described&#44; including blistering&#44; anetodermic&#44; perforating&#47;ulcerated&#44; lymphangiectasic&#44; and malignant forms&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Pilomatrixomas of over 5<span class="elsevierStyleHsp" style=""></span>cm in diameter are considered giant&#46; Only 4 cases of giant pilomatrixoma have been described&#44; all in adults<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#44;7</span></a>&#58; 2 ulcerated and 2 with areas of erosion&#46; Two cases of giant pilomatrixoma associated with hypercalcemia have also been described&#44; both of which resolved after resection&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The differential diagnosis includes dermatofibrosarcoma protuberans&#44; calcinosis cutis&#44; osteoma cutis&#44; cutaneous lymphomas&#44; sarcomas&#44; squamous carcinoma&#44; and cutaneous metastases&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">The giant&#44; ulcerated clinical form must be differentiated from the malignant form&#44; and should be suspected in cases of sudden growth of a pre-existing lesion with ulceration and bleeding&#46; Indicators of malignancy include necrosis&#44; atypical mitotic figures&#44; perineural or perivascular invasion&#44; and the degree and extent of infiltration&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Ultrasound reveals an echogenic lesion with posterior acoustic shadowing&#46; 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Vol. 104. Núm. 10.
Páginas 924-925 (diciembre 2013)
Vol. 104. Núm. 10.
Páginas 924-925 (diciembre 2013)
Case and Research Letter
Acceso a texto completo
Ulcerated Giant Pilomatrixoma in a Child
Pilomatrixoma gigante y ulcerado en un niño
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8167
P. Stefanoa,
Autor para correspondencia
paoladermatologia@yahoo.com.ar

Corresponding author.
, S. Apab, B. Balancinic
a Servicio de Dermatología, Hospital Nacional de Pediatría Dr. Prof. JP Garrahan, Buenos Aires, Argentina
b Servicio de Cirugía Plástica, Hospital Nacional de Pediatría Dr. Prof. JP Garrahan, Buenos Aires, Argentina
c Servicio de Diagnóstico por Imágenes, Hospital Nacional de Pediatría Dr. Prof. JP Garrahan, Buenos Aires, Argentina
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To the Editor:

We report the case of a 7 year-old boy who presented with a lesion on the left arm that had developed 2 years earlier and had suddenly increased in size in the preceding month. A Doppler ultrasound performed 1 month earlier revealed an echogenic mass of 1.6 × 1.7 × 1cm with posterior acoustic shadowing.

Examination revealed a stony-hard, exophytic, pedunculated tumor of 8cm in diameter on the patient's left arm. The overlying skin was absent, exposing an eroded surface and a bleeding tumor bed with a crater-like appearance (Fig. 1). Nuclear magnetic resonance imaging (MRI) and magnetic resonance angiography showed an exophytic formation consisting of a heterogeneous nodule with a hypointense halo surrounded by hyperintense tissue, and a large number of tortuous vessels in the stalk (Fig. 2). The tumor was excised and the defect reconstructed with a Dufourmentel flap. Histopathology revealed the presence of lobules of basaloid cells showing maturation toward the surface, the formation of cells with abundant eosinophilic cytoplasm, sheets of eosinophilic keratinous debris, and pilar keratinization. The lobules were surrounded by a fibrous stroma with mononuclear, histiocytic inflammatory infiltrate and foreign body-type multinucleated giant cells. Numerous foci of dystrophic calcification were observed. These findings were consistent with a diagnosis of giant pilomatrixoma with foreign-body giant-cell reaction (Fig. 3). The patient progressed favorably and there was no recurrence after 1 year of follow-up.

Figure 1.

Pedunculated exophytic tumor with eroded and bleeding surface.

(0.09MB).
Figure 2.

Nuclear magnetic resonance imaging: exophytic formation with a heterogeneous nodule surrounded by a hypointense halo and abundant vascularity in the stalk.

(0.14MB).
Figure 3.

Histology: lobules of basaloid cells with maturation toward the surface and ghost cell formation (hematoxylin-eosin, original magnification ×100).

(0.17MB).

Pilomatrixoma is a benign adnexal tumor with differentiation towards hair matrix cells, and is most common in children and those over 60.1 Although the etiology of this tumor is unknown, in 75% of cases a mutation has been identified in CTNNB1, the gene encoding beta-catenin, a signaling protein involved in hair follicle development.2

Pilomatrixomas are slow-growing nodules measuring 1 to 1.5cm across; they frequently calcify, giving rise to bluish discoloration of the overlying skin, which may extrude calcific material.3 Nodules can be multiple or solitary. Solitary tumors have been described in genetic syndromes such as Turner syndrome, Sotos syndrome, myotonic dystrophy, Rubinstein-Taybi syndrome, Gardner syndrome, trisomy 9, basal cell nevus syndrome, and xeroderma pigmentosum.4 Multiple pilomatrixomas have been reported in healthy patients.5 Other clinicopathologic variants have also been described, including blistering, anetodermic, perforating/ulcerated, lymphangiectasic, and malignant forms.

Pilomatrixomas of over 5cm in diameter are considered giant. Only 4 cases of giant pilomatrixoma have been described, all in adults6,7: 2 ulcerated and 2 with areas of erosion. Two cases of giant pilomatrixoma associated with hypercalcemia have also been described, both of which resolved after resection.7

The differential diagnosis includes dermatofibrosarcoma protuberans, calcinosis cutis, osteoma cutis, cutaneous lymphomas, sarcomas, squamous carcinoma, and cutaneous metastases.

The giant, ulcerated clinical form must be differentiated from the malignant form, and should be suspected in cases of sudden growth of a pre-existing lesion with ulceration and bleeding. Indicators of malignancy include necrosis, atypical mitotic figures, perineural or perivascular invasion, and the degree and extent of infiltration.8

Ultrasound reveals an echogenic lesion with posterior acoustic shadowing. In the present case the extension of the lesion was evaluated by MRI, which revealed an exophytic formation with hypervascularization, as described in a previous case of giant pilomatrixoma.9

The pilomatrixoma case described here is of interest due to the sudden increase in the size of the lesion; while this characteristic suggested a malignant tumor, malignancy was subsequently ruled out by histopathology.

Acknowledgments

We thank the doctors in the Hospital Nacional de Pediatría Prof. Dr. JP Garrahan who were involved in the handling and resolution of this case: Dr. Adrián Martín Pierini, Dr. Amelia Laterza, and Dr. Fabiana Lubieniecki.

References
[1]
C.G. Julian, P.W. Bowers.
A clinical review of 209 pilomatricomas.
J Am Acad Dermatol, 39 (1998), pp. 191-195
[2]
Y. Gilaberte, M. Ferrer-Lozano, M.J. Olivan, C. Coscojuela, M. Abascal, P. Lapunzina.
Multiple giant pilomatricoma in familial Sotos Syndrome.
Pediatr Dermatol, 25 (2008), pp. 121-124
[3]
M. Khammash, D. Todd, A. Abalkhail.
Concurrent pilomatrix carcinoma and giant pilomatrixoma.
Austral J Dermatol, 42 (2001), pp. 120-123
[4]
H. Uchimiya, T. Kanekura, A. Gushi, S. Fukumaru, Y. Baba, T. Kanzaki.
Multiple giant pilomatricoma, letter to the editor.
J Dermatol, 33 (2006), pp. 644-645
[5]
F.J. Fernández Arias, R.M. Marco, J.A. Heras Tabernero, D. Muñoz Marcos, L. Barba Diaz, P. Martinez Murillo, et al.
Pilomatricoma múltiple. Casos breves.
Actas Dermosifiliogr, 91 (2000), pp. 529-530
[6]
M. Kovacic, M. Rudic, I. Nekic, N. Lisica-Sikic, Z. Kranjcec, T. Simurina.
Giant pilomatrixoma (benign calcifyng epithelioma of Malherbe) of the neck and face.
Dermatology Surgery, 33 (2007), pp. 340-343
[7]
M. Yamauchi, T. Yotsuyanagi, T. Saito, K. Ikeda, S. Urushidate, Y. Higuma.
Three cases of giant pilomatrixoma-considerations for diagnosis and treatment of giant skin tumours with abundant inner calcification present on the upper body.
J Plastic Reconstr Aesthet Surg, 63 (2010), pp. e519-e524
[8]
V. Huerva, C. Sanchez, J. Asenjo.
Large, rapidly growing pilomatrixoma of the upper eyelid.
Ophthal Plast Reconstr Surg, 22 (2006), pp. 401-403
[9]
G.P. Lozzi, H.P. Soyer, J. Freuhauf, C. Massone, K. Helmut, P. Ketty.
Giant pilomatricoma.
Am J Dermopathol, 29 (2007), pp. 286-289

Please cite this article as: Stefano P, Apa S, Balancini B. Pilomatrixoma gigante y ulcerado en un niño. Actas Dermosifiliogr. 2013;104:924–925.

Copyright © 2012. Elsevier España, S.L. and AEDV
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