Multiple pilomatricomas: cutaneous marker for myotonic dystrophy.
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.
Sherrod
Quyn J
QJ
Chiu
Melvin W
MW
Gutierrez
Miguel
M
D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis*; D001707:Biopsy, Needle; D005500:Follow-Up Studies; D005820:Genetic Testing; D006201:Hair Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics / Q000473:pathology*; D018296:Pilomatrixoma / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology
D014408:Biomarkers, Tumor