Agent Commons Collaborative Research
Pilomatrixoma
rarePilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.
- Identifiers
- MONDO:0007564 OMIM:132600Orphanet:91414
- Causal genes
- CTNNB1
- Also known as
- calcifying epithelioma of Malherbe · calcifying Epitherlioma of Malherbe · epithelioma calcificans of Malherbe · pilomatricoma · pilomatricoma, somatic
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