Pilomatricomas in Turner Syndrome

Simon Wood, M.R.C.S.,* Dai Nguyen, M.R.C.S.,* Kim Hutton, F.R.C.S.,� and

William Dickson, F.R.C.S.*

*Department of Burns and Plastic Surgery, Morriston Hospital, Swansea, UK; �Department of PediatricSurgery, University Hospital of Wales, Cardiff, UK

Abstract: Pilomatricomas are benign, cutaneous tumors of the hairmatrix cells, which present predominantly in childhood. Although usually anisolated finding, they have been described in association with severalinherited conditions. We report a 10-year-old girl with Turner syndrome whohas two pilomatricomas, including one giant tumor. In combination with aprevious report of pilomatricoma in two patients with Turner syndrome, ourobservation indicates that it is likely a real, although uncommon, associationof pilomatricomas with Turner syndrome exists.. This apparent predisposi-tion may be etiologically related to the abnormalities of hair-bearing skinobserved in Turner syndrome. Doctors involved in the diagnosis andmanagement of cutaneous masses in children should be aware of thisassociation.

CASE REPORT

A 10-year-old Caucasian girl was referred with anenlarging skin lesion on her right arm of 20 months’duration. The patient was diagnosed with Turner syn-drome (TS) by chromosomal analysis at the age of7 years and had clinical features including increasedcarrying angle, low posterior hairline, and associatedhypothyroidism. Examination revealed a 50 · 40 mmnontender, solid, mobile mass arising from the posterioraspect of the right armproximal to the elbow (seeFig. 1).Also present was a 5-mm-diameter palpable nodulesituated on the radial aspect of the proximal right fore-arm. The overlying skin of both lesions appeared normaland no regional lymphadenopathy was evident. She hadno other skin lesions or areas of skin pigmentation.

Under general anesthesia, the lesions were widely ex-cisedwith the armdefect closedwith a split skin graft andthe forearm by direct closure. Histology showed a

50 · 40 · 40 mm tumor composed of basaloid cells andshadow keratinocytes with focal calcification and asmaller 4-mm-diameter mass demonstrating identicalfeatures (see Fig. 2). No evidence of malignancy waspresent in either specimen and both lesions were diag-nosed as pilomatricomas.

DISCUSSION

Pilomatricomas are benign, cutaneous tumors of the hairmatrix cells, which demonstrate a characteristic histo-logic appearance including shadow (or ‘‘ghost’’) cells andareas of calcification. Their heterogeneity in appearanceoften leads to clinical misdiagnosis for a range of cysticand solid lesions including sebaceous and dermoid cysts,neurofibromata, lymphangiovascular masses, or cuta-neous lymphoma. They are usually solitary and mostcommonly observed on the head and neck. These lesionsmay be found in all age groups with bimodal peaks in

Address correspondence to Simon Wood, M.R.C.S., Depart-ment of Burns and Plastic Surgery, Morriston Hospital, Swansea,United Kingdom, SA6 6NL, or e-mail: siwood@doctors.org.uk.

DOI: 10.1111/j.1525-1470.2008.00732.x

� 2008 The Authors. Journal compilation � 2008 Wiley Periodicals, Inc. 449

Pediatric Dermatology Vol. 25 No. 4 449–451, 2008

those under 30 years and in the sixth ⁄ seventh decades oflife (1,2). Pilomatrix carcinomas occur extremely rarelyand only three children have been reported in the litera-ture (3–5).Multiple pilomatricomasare infrequently seen(2–3.5% of reported cases) but have been described inassociation with myotonic dystrophy (6), Gardner syn-drome (7), spina bifida (8), and Rubinstein–Taybi syn-drome (9) in addition to familial inheritance (10,11).Similarly, giant (>50 mmdiameter) pilomatricomas areseldom encountered and are usually found as a singlelesion but may also present as multiple masses (12).Tumor size does not correlate with prognosis, althoughrecurrence may occur if incompletely excised (13). Theexact etiology of these hair matrix neoplasms is unclear,but both pilomatricomas and pilomatrix carcinomasdemonstrate mutations in b-catenin, a signaling proteininvolved in hair follicle development (14,15).

Numerous cutaneous stigmata are known to beassociated with TS and include increased number of

benign melanocytic nevi, tendency for hypertrophicscarring and keloid formation, and lymphatic abnor-malities resulting in webbing of the neck, redundantneck folds, and lymphoedema of the limb (1).Notably, despite the high prevalence of nevi, thereappears to be an unexpectedly low incidence ofcutaneous melanoma (16). Significant variation inhair growth is also reported in TS. This may manifestas facial or limb hirsuitism, or conversely as lack ofhair, demonstrated by scanty pubic or axillary growthand alopecia areata. Unusual patterns of hair devel-opment including asynchronous scalp hair growthand atypical distribution of axillary hair has also beenobserved (1). To date, there has been only one reportdocumenting two cases of small (<20 mm diameter)pilomatricomas in patients with Turner syndromepresenting at 8 and 23 years of age (17). We presenta case of a 10-year-old patient exhibiting TS and twopilomatricomas, one of which was a rapidly enlarginggiant tumor.

Patients with TS demonstrate significant cutaneousabnormalities, especially of hair-bearing skin. We sug-gest that predisposition topilomatricoma formationmaynot merely be a coincidental finding but an additional,although uncommon, association with TS. Althoughfurther reports of patients exhibiting these two condi-tions are needed to confirm this association, any doctorinvolved in the diagnosis or excision of cutaneousmassesin children should be aware of the possible link with TS.

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Figure 2. Photomicrograph of excised pilomatricomademonstrating basaloid cells (A) and shadow keratinocytes(B) (hematoxylin and eosin, 40· magnification).

Figure 1. 50 · 40 mm solid mass on posterior aspect ofright arm. Note the 5 mm palpable nodule on the right forearmwas not visible.

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