Multiple keratoacanthoma, Ferguson-Smith type
General Information (adopted from Orphanet):
Synonyms, Signs: |
FERGUSON-SMITH TYPE EPITHELIOMA ESS1, FORMERLY ESS1 MSSE Multiple self-healing squamous epithelioma Self-healing squamous epithelioma type 1 |
Number of Symptoms | 10 |
OrphanetNr: | 65748 |
OMIM Id: |
132800
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ICD-10: |
D23 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Benign tumor of palpebral epidermis
-Rare eye disease -Rare genetic disease Genetic skin tumor -Rare genetic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(HPO:0002664) | Neoplasm | 111 / 7739 | ||||
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(OMIM) | Tumors are locally invasive | 1 / 7739 | ||||
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(OMIM) | Tumors undergo spontaneous resolution over a period of months | 1 / 7739 | ||||
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(OMIM) | Tumors are morphologically similar to well-differentiated squamous cell carcinoma | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Tumors appear most often on sun-exposed regions | 1 / 7739 | ||||
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(OMIM) | Squamous epitheliomas, multiple | 1 / 7739 | ||||
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(HPO:0003674) | Onset | 32 / 7739 | ||||
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(OMIM) | Tumors leave pitting scars | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
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 ... |
Clinical Description OMIM |
Ferguson Smith (1934) first described this disorder in a single case, that of a 23-year-old miner, who first developed spots on the legs at age 16 years. The lesions healed spontaneously, but were replaced by others at neighboring ... |
Molecular genetics OMIM |
In affected members of 18 different families with MSSE, Goudie et al. (2011) identified 11 different heterozygous mutations in the TGFBR1 gene (see, e.g., 190181.0009-190181.0012). The first mutations were found using high-throughput genomic sequencing and exon array capture ... |
Population genetics OMIM |
Ferguson-Smith et al. (1971) assembled reliable information on 62 cases in western Scotland, and suggested that all the Scottish cases derived from a single mutation which occurred before 1790. The Scottish cases were in 11 independently ascertained families ... |