Is genetic testing necessary in patients with multiple pilomatrixomas? A case series

Pilomatrixomas are benign skin tumors derived from hair follicles that present as slow-growing subcutaneous nodules usually occurring in childhood. The presence of multiple pilomatrixomas has previously been linked to various genetic conditions. In this study, we review a series of children with multiple pilomatrixomas and focus on genetic associations. We conducted a retrospective chart review of pediatric patients diagnosed with two or more pilomatrixomas over a ten-year period. Assessment of other medical conditions was performed by genetic testing and phone interviews with families. In our cohort of 19 patients with multiple pilomatrixomas, only one received a diagnosis of a genetic condition, Kabuki syndrome. Our findings suggest that the association between multiple pilomatrixomas and other genetic conditions may be less common than previously thought. Routine genetic testing may provide limited benefit, so screening should be individualized.