Specialty oncology DiseasesDB 32128 | ICD-10 D23 eMedicine article/1058965 | |
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Pilomatricoma, also known as a calcifying epithelioma of Malherbe, Malherbe calcifying epithelioma, and Pilomatrixoma, is a benign skin tumor derived from the hair matrix. These neoplasms are relatively uncommon and typically occur on the scalp, face, and upper extremities. Clinically, pilomatricomas present as a subcutaneous nodule or cyst with unremarkable overlying epidermis that can range in size from 0.5-3.0 cm, but the largest reported cases was 24 cm.
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Histologic features
Pilomatricomas consist of anucleate squamous cells (called "ghost cells"), benign viable squamous cells and foreign body giant cells. These neoplasms have a characteristic transition of cells. The lining of the cyst consists of basoloid cells with indistinct cell borders and basophilic nuclei that mature into the eosinophilic anucleated squamous cells. The presence of calcifications with foreign body giant cells is common with in the tumors.
Pathogenesis
Pilomatricoma is associated with high levels of beta-catenin caused by either a mutation in the APC gene or a stabilizing mutation in the beta-catenin gene, CTNNB1. High levels of beta-catenin increases cell proliferation, inhibit cell death, and ultimately leads to neoplastic growth.
Associations
Pilomatricomas have been observed in a variety of genetic disorders including Turner syndrome, myotonic dystrophy, Rubinstein-Taybi syndrome. Trisomy 9, and Gardner syndrome. It has been reported that the prevalence of pilomatricomas in Turner syndrome is 2.6%.
Hybrid cysts that are composed of epidermal inclusion cysts and pilomatricoma-like changes have been repeatedly observed in Gardner syndrome. This association has prognostic important since cutaneous findings in children with Gardner Syndrome generally precede colonic polyposis.