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Multiple Self Healing Epithelioma of Ferguson-Smith

MedGen UID:
83396
Concept ID:
C0345982
Neoplastic Process
Synonyms: Ferguson-Smith tumor; Ferguson-Smith Tumor; Multiple self-healing epithelioma of Ferguson-Smith
SNOMED CT: Ferguson-Smith tumor (254659009); Multiple self-healing epithelioma of Ferguson-Smith (254659009)

Definition

A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple Self Healing Epithelioma of Ferguson-Smith

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