Multiple pilomatricomas in the setting of myotonic dystrophy.
The association between multiple pilomatricomasand the autosomal dominant neurodegenerativedisorder myotonic dystrophy has been described inthe literature. Although the mechanism is unknown,it is hypothesized that the dystrophia myotonicaprotein kinase mutation in myotonic dystrophyaffects intracellular calcium levels, which alterproliferation and terminal differentiation that leads tocells that are observed in pilomatricomas. We presenta patient with multiple, symptomatic pilomatricomasand myotonic dystrophy, with a strong family historyof both of these rare disorders.
Ronald O. Perelman Department of Dermatology, NYU School of Medicine, NYU Langone Medical Center.
Joyce H
JH
Park
Vitaly
V
Terushkin
Nooshin
N
Brinster
Marie
M
Leger
Nicholas A
NA
Soter
D000328:Adult; D001415:Back; D005542:Forearm; D006201:Hair Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications*; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D018296:Pilomatrixoma / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology