1. Multiple pilomatricomas: Cutaneous marker for myotonic dystrophy
- Author
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Melvin W. Chiu, Quyn J Sherrod, and Miguel A Gutierrez
- Subjects
Systemic disease ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,Epithelioma ,business.industry ,Wnt signaling pathway ,Pilomatricoma ,Dermatology ,General Medicine ,medicine.disease ,Myotonic dystrophy ,Benign tumor ,Gene product ,Biopsy ,medicine ,business - Abstract
We report an interesting case of multiple pilomatricomas (MPs) in a patient with myotonic dystrophy. Pilomatricoma (calcifying epithelioma of Malherbe) is a benign tumor of hair matrix derivation. It usually occurs as a solitary, firm, asymptomatic nodule on the face, neck, or proximal upper extremity. Most pilomatricomas have activating mutations in the ss-catenin gene (encoded by CTNNB1), leading to involvement of the WNT signaling pathway. The resulting gene product activates transcription leading to tumorigenesis [1]. Since the onset of MPs may precede the signs of myotonic dystrophy, they can serve as potential early cutaneous markers for this systemic disease.
- Published
- 2008