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
ICD-10: D23
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0002664) Neoplasm 111 / 7739
3
(OMIM) Tumors are locally invasive 1 / 7739
4
(OMIM) Tumors undergo spontaneous resolution over a period of months 1 / 7739
5
(OMIM) Tumors are morphologically similar to well-differentiated squamous cell carcinoma 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Tumors appear most often on sun-exposed regions 1 / 7739
8
(OMIM) Squamous epitheliomas, multiple 1 / 7739
9
(HPO:0003674) Onset 32 / 7739
10
(OMIM) Tumors leave pitting scars 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...