Pilomatrixoma Differential Diagnoses

Updated: Oct 13, 2020
  • Author: Jaggi Rao, MD, FRCPC; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Also consider breast carcinoma. [39, 40]

A review of the literature in 1999 showed that 25 cases were associated with myotonic dystrophy, a rare neuromuscular disorder transmitted as an atypical autosomal dominant trait with variable expression. It is characterized by the myotonic phenomenon, consisting of difficulty in relaxing a muscle after a normal contraction. Patients tended to have multiple pilomatrixomas, with up to 31 lesions. Multiple pilomatrixomas may be a marker for myotonic dystrophy.

Investigators have also reported isolated cases in association with Rubinstein-Taybi syndrome, Turner syndrome, Goldenhar syndrome, Churg-Strauss syndrome, sternal cleft and mild coagulative defect, and sarcoidosis. [35, 41, 42, 43] Pilomatrixomalike changes have been observed in the cutaneous cysts of persons with Gardner syndrome. [44, 45]

One review of the literature in 1999 reported on 55 cases of pilomatrix carcinoma. Most occurred in patients older than 40 years (mean, 46 y; range, 8-88 y). They were locally aggressive tumors that had a tendency to recur. Four patients had visceral metastases, and death has been reported.

Differential Diagnoses