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Pilomatrixoma

Disease definition

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).

ORPHA:91414

  • Synonym(s):
    • Epithelioma calcificans of Malherbe
    • Pilomatricoma
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: C44.3  C44.6
  • OMIM: 132600
  • UMLS: C0206711
  • MeSH: D018296
  • GARD: 9452
  • MedDRA: 10035040

Additional information

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