^ http://www.ebi.ac.uk/efo/EFO_0009082

Pilomatrixoma 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 (see these terms). [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: Pilomatricoma, Epithelioma calcificans of Malherbe

Term info

database cross reference
  • Orphanet:91414 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • MeSH:D018296 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • UMLS:C0206711 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • OMIM:132600 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
term editor

Hannah McLaren

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