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Prevalence of Pilomatricoma in Turner Syndrome:  Findings From a Multicenter Study

Marc Z. Handler, MD; Kristina M. Derrick, MD, ScM; Richard E. Lutz, MD; Dean S. Morrell, MD; Marsha L. Davenport, MD; April W. Armstrong, MD, MPH
JAMA Dermatol. 2013;149(5):559-564. doi:10.1001/2013.jamadermatol.115.
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Importance The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation.

Objectives To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome.

Design A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected.

Setting University of California–Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill.

Participants Patients with a diagnosis of Turner syndrome.

Main Outcome Measures Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH).

Results In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy.

Conclusions and Relevance Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

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Figure 1. Child with pilomatricoma on the nose.

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Figure 2. Pilomatricoma lesion on the lateral aspect of the bicep.

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Figure 3. Sharply demarcated pilomatricoma tumor surrounded by a fibrous capsule (hematoxylin-eosin, original magnification ×5). Reproduced with permission from Maxwell Fung, MD.

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Figure 4. Pilomatricoma showing darkly stained basophilic calcium and shadow cells with missing nuclei (hematoxylin-eosin, original magnification ×40). Reproduced with permission from Maxwell Fung, MD.

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