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GTR Home > Conditions/Phenotypes > Multiple self-healing squamous epithelioma

Multiple self-healing squamous epithelioma

Synonyms
ESS1 (formerly); Ferguson-Smith type epithelioma; MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980). [from OMIM]

Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I, TGFBR1
    Summary: transforming growth factor beta receptor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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