MSSE
MCID: MLT152
MIFTS: 45

Multiple Self-Healing Squamous Epithelioma (MSSE)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Self-Healing Squamous Epithelioma

MalaCards integrated aliases for Multiple Self-Healing Squamous Epithelioma:

Name: Multiple Self-Healing Squamous Epithelioma 57 58 72 29 6 70
Msse 57 20 58 72
Self-Healing Squamous Epithelioma Type 1 58 72
Ferguson-Smith Type Epithelioma 20 72
Ferguson-Smith Disease 58 72
Familial Primary Self-Healing Squamous Epithelioma of the Skin, Ferguson-Smith Type 58
Multiple Self-Healing Squamous Epithelioma, Susceptibility to 57
Multiple Keratoacanthoma, Ferguson-Smith Type 58
Epithelioma, Squamous, Multiple Self Healing 39
Multiple Self Healing Squamous Epithelioma 20
Ferguson-Smith-Type Epithelioma 57
Ess1, Formerly 57
Ess1 72

Characteristics:

Orphanet epidemiological data:

58
multiple self-healing squamous epithelioma
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (8 to 62 years)
increased frequency in individuals originating from western scotland


HPO:

31
multiple self-healing squamous epithelioma:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 132800
MeSH 44 D007636
ICD10 via Orphanet 33 C44.3 C44.6 C44.7
UMLS via Orphanet 71 C0546476
Orphanet 58 ORPHA65748
UMLS 70 C0546476

Summaries for Multiple Self-Healing Squamous Epithelioma

OMIM® : 57 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). (132800) (Updated 05-Apr-2021)

MalaCards based summary : Multiple Self-Healing Squamous Epithelioma, also known as msse, is related to fanconi anemia, complementation group c and xeroderma pigmentosum, variant type. An important gene associated with Multiple Self-Healing Squamous Epithelioma is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are Translation Non-genomic (rapid) action of Androgen Receptor and SMAD2/3 MH2 Domain Mutants in Cancer. Affiliated tissues include skin, brain and eye, and related phenotypes are neoplasm and abnormality of the skin

UniProtKB/Swiss-Prot : 72 Multiple self-healing squamous epithelioma: A disorder characterized by multiple skin tumors that undergo spontaneous regression. Tumors appear most often on sun-exposed regions, are locally invasive, and undergo spontaneous resolution over a period of months leaving pitted scars.

Related Diseases for Multiple Self-Healing Squamous Epithelioma

Diseases related to Multiple Self-Healing Squamous Epithelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group c 30.0 XPA FANCC
2 xeroderma pigmentosum, variant type 29.6 XPA PTCH1 FANCC
3 basal cell carcinoma 29.4 XPA TGFBR2 PTCH1
4 familial keratoacanthoma 11.6
5 loeys-dietz syndrome 10.5
6 skin carcinoma 10.4
7 marfan syndrome 10.3
8 aortic aneurysm, familial thoracic 4 10.2
9 neuropathy, hereditary sensory and autonomic, type ia 10.2
10 xeroderma pigmentosum, complementation group a 10.2
11 branchiootic syndrome 1 10.2
12 deficiency anemia 10.2
13 hereditary sensory neuropathy 10.2
14 squamous cell carcinoma 10.2
15 sensory peripheral neuropathy 10.2
16 gastric antral vascular ectasia 10.2
17 keratoacanthoma 10.2
18 peripheral nervous system disease 10.2
19 muscular atrophy 10.2
20 neuropathy 10.2
21 erythrokeratoderma ''en cocardes'' 10.2
22 familial thoracic aortic aneurysm and aortic dissection 10.2
23 9q22.3 microdeletion 10.0 PTCH1 FANCC
24 pulsating exophthalmos 10.0 TGFBR2 TGFBR1
25 transient hypogammaglobulinemia of infancy 10.0 TGFBR2 TGFBR1
26 transient hypogammaglobulinemia 10.0 TGFBR2 TGFBR1
27 tricuspid valve prolapse 10.0 TGFBR2 TGFBR1
28 loeys-dietz syndrome 5 10.0 TGFBR2 TGFBR1
29 heritable thoracic aortic disease 10.0 TGFBR2 TGFBR1
30 mitochondrial dna depletion syndrome 12b 10.0 TGFBR2 TGFBR1
31 loeys-dietz syndrome 3 10.0 TGFBR2 TGFBR1
32 loeys-dietz syndrome 4 10.0 TGFBR2 TGFBR1
33 arterial tortuosity syndrome 10.0 TGFBR2 TGFBR1
34 aortic valve insufficiency 10.0 TGFBR2 TGFBR1
35 camurati-engelmann disease 10.0 TGFBR2 TGFBR1
36 loeys-dietz syndrome 2 10.0 TGFBR2 TGFBR1
37 loeys-dietz syndrome 1 10.0 TGFBR2 TGFBR1
38 familial colorectal cancer 10.0 TGFBR2 TGFBR1
39 collagen disease 10.0 TGFBR2 TGFBR1
40 helix syndrome 9.9
41 cryptococcosis 9.9
42 cutis laxa, autosomal dominant 1 9.9 TGFBR2 TGFBR1
43 aortic aneurysm, familial thoracic 1 9.9 TGFBR2 TGFBR1
44 patent ductus arteriosus 1 9.8 TGFBR2 TGFBR1
45 aortic valve disease 1 9.8 TGFBR2 TGFBR1 DSG1
46 orofacial cleft 9.7 TGFBR2 TGFBR1 PTCH1
47 skin benign neoplasm 9.7 XPA PTCH1
48 intracranial aneurysm 9.7 TGFBR2 TGFBR1
49 cleft palate, isolated 9.6 TGFBR2 TGFBR1 PTCH1
50 basal cell nevus syndrome 9.6 XPA PTCH1 FANCC

Graphical network of the top 20 diseases related to Multiple Self-Healing Squamous Epithelioma:



Diseases related to Multiple Self-Healing Squamous Epithelioma

Symptoms & Phenotypes for Multiple Self-Healing Squamous Epithelioma

Human phenotypes related to Multiple Self-Healing Squamous Epithelioma:

31
# Description HPO Frequency HPO Source Accession
1 neoplasm 31 HP:0002664
2 abnormality of the skin 31 HP:0000951

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
squamous epitheliomas, multiple
tumors appear most often on sun-exposed regions
tumors are locally invasive
tumors undergo spontaneous resolution over a period of months
tumors leave pitting scars

Skin Nails Hair Skin Histology:
tumors are morphologically similar to well-differentiated squamous cell carcinoma

Neoplasia:
squamous epitheliomas, multiple

Clinical features from OMIM®:

132800 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Multiple Self-Healing Squamous Epithelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 FANCC PTCH1 TGFBR1 TGFBR2 XPA
2 integument MP:0010771 9.55 DSG1 PTCH1 TGFBR1 TGFBR2 XPA
3 neoplasm MP:0002006 9.26 PTCH1 TGFBR1 TGFBR2 XPA
4 skeleton MP:0005390 9.1 DSG1 FANCC PTCH1 TGFBR1 TGFBR2 XPA

Drugs & Therapeutics for Multiple Self-Healing Squamous Epithelioma

Search Clinical Trials , NIH Clinical Center for Multiple Self-Healing Squamous Epithelioma

Genetic Tests for Multiple Self-Healing Squamous Epithelioma

Genetic tests related to Multiple Self-Healing Squamous Epithelioma:

# Genetic test Affiliating Genes
1 Multiple Self-Healing Squamous Epithelioma 29 TGFBR1

Anatomical Context for Multiple Self-Healing Squamous Epithelioma

MalaCards organs/tissues related to Multiple Self-Healing Squamous Epithelioma:

40
Skin, Brain, Eye, Lung

Publications for Multiple Self-Healing Squamous Epithelioma

Articles related to Multiple Self-Healing Squamous Epithelioma:

(show top 50) (show all 156)
# Title Authors PMID Year
1
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 57 6 61
21358634 2011
2
Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry. 57 6
8499949 1993
3
The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity. 61 57
16170343 2006
4
A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. 57 61
9722951 1998
5
Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes. 57 61
9439661 1997
6
Multiple self-healing squamous epithelioma. 61 6
5173258 1971
7
Treatment of keratoacanthomas with oral 13-cis-retinoic acid. 57
6931285 1980
8
FAMILIAL PRIMARY SELF-HEALING SQUAMOUS EPITHELIOMA OF SKIN: FERGUSON-SMITH TYPE. 57
14295519 1965
9
[SPONTANEOUSLY HEALING FERGUSON-SMITH EPITHELIOMAS AND MULTIPLE FAMILIAL KERATOACANTHOMAS]. 57
14134562 1964
10
Multiple primary self-healing squanous-cell epitheliomas of the skin; generalized keratoacanthoma. 57
13393790 1957
11
Multiple primary spontaneous-healing squamous-cell carcinomata of the skin. 57
13000595 1952
12
Familial primary self-healing squamous epithelioma of the skin. (Ferguson Smith type). 57
24539565 1950
13
Dynamic Leukocyte Populations Are Associated With Early- and Late-stage Lesions in Hidradenitis Suppurativa. 61
33238789 2021
14
A first-principles study of Janus monolayer TiSSe and VSSe as anode materials in alkali metal ion batteries. 61
32916671 2021
15
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9. 61
33256177 2020
16
van der Waals heterostructures based on MSSe (M = Mo, W) and graphene-like GaN: enhanced optoelectronic and photocatalytic properties for water splitting. 61
32901640 2020
17
Topical antibiotic therapy in eye infections - myths and certainties in the era of bacterial resistance to antibiotics. 61
33367158 2020
18
Resistance and cross-resistance in Staphylococcus spp. strains following prolonged exposure to different antiseptics. 61
31698107 2020
19
Antimicrobial Silver Multilayer Coating for Prevention of Bacterial Colonization of Orthopedic Implants. 61
32245004 2020
20
Is the administration of vancomycin to operative field effective? Studying from operative wound drainage tube culture. 61
31605209 2020
21
In vitro Susceptibilities of Methicillin-Susceptible and Resistant Staphylococci to Traditional Antibiotics Compared to a Novel Fluoroquinolone. 61
32103368 2020
22
Risk factors for deep surgical site infection following thoracolumbar spinal surgery 61
32011834 2019
23
Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases - Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma. 61
33693090 2019
24
Adaptation and validation of the Arabic version of self-efficacy scale for mammography. A report on psychometric properties. 61
31287132 2019
25
Iodine-supported titanium implants have good antimicrobial attachment effects. 61
30409704 2019
26
Interface Schottky barrier in Hf2NT2/MSSe (T = F, O, OH; M = Mo, W) heterostructures. 61
30783635 2019
27
Self-efficacy and Physical and Cognitive Function in Older Adults with Multiple Sclerosis. 61
31049036 2019
28
Staphylococcus aureus versus Staphylococcus epidermidis in periprosthetic joint infection-Outcome analysis of methicillin-resistant versus methicillin-susceptible strains. 61
30266398 2019
29
Antibacterial activity evaluation of synthetic novel pleuromutilin derivatives in vitro and in experimental infection mice. 61
30445267 2019
30
0.01% Hypochlorous Acid as an Alternative Skin Antiseptic: An In Vitro Comparison. 61
29985866 2018
31
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. 61
30513140 2018
32
A 5-year study of the performance of the Verigene Gram-positive blood culture panel in a pediatric hospital. 61
30099638 2018
33
In vitro activity of oritavancin against biofilms of staphylococci isolated from prosthetic joint infection. 61
29885758 2018
34
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. 61
29706644 2018
35
Cross-cultural adaptation and psychometric testing of the Quality of Dying and Death Questionnaire for the Spanish population. 61
29551182 2018
36
Concomitant treatment with sertraline and social skills training improves social skills acquisition in social anxiety disorder: A double-blind, randomized controlled trial. 61
30372482 2018
37
Multisensory Stimulation and Individualized Music Sessions on Older Adults with Severe Dementia: Effects on Mood, Behavior, and Biomedical Parameters. 61
29843244 2018
38
Anticonvulsant and Antioxidant Effects of Musa sapientum Stem Extract on Acute and Chronic Experimental Models of Epilepsy. 61
29568187 2018
39
Effects of Musa sapientum stem extract on experimental models of anxiety. 61
29299432 2017
40
Structural stability and intriguing electronic properties of two-dimensional transition metal dichalcogenide alloys. 61
28513742 2017
41
Self-efficacy and Walking Performance in Persons With Multiple Sclerosis. 61
28263255 2017
42
Nonuniformity correction based on focal plane array temperature in uncooled long-wave infrared cameras without a shutter. 61
28158089 2017
43
[Multicenter observational program for evaluation of the effectiveness of the recognan (citicoline) in the correction of cognitive impairment in patients with chronic cerebrovascular pathology]. 61
28884715 2017
44
Synthesis and Biological Evaluation of Novel Thioether Pleuromutilin Derivatives. 61
28768998 2017
45
Is Salivary Chromogranin A a Valid Psychological Stress Biomarker During Sensory Stimulation in People with Advanced Dementia? 61
27886013 2017
46
Sesame indicum, a nutritional supplement, elicits antiamnesic effect via cholinergic pathway in scopolamine intoxicated mice. 61
26434561 2016
47
Refined Multiscale Hilbert-Huang Spectral Entropy and Its Application to Central and Peripheral Cardiovascular Data. 61
26930670 2016
48
Effect of Musa sapientum Stem Extract on Animal Models of Depression. 61
27695263 2016
49
Erratum. 61
26041800 2016
50
The relationship between brain-derived neurotrophic factor, irisin and cognitive skills of endurance athletes. 61
27254486 2016

Variations for Multiple Self-Healing Squamous Epithelioma

ClinVar genetic disease variations for Multiple Self-Healing Squamous Epithelioma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) SNV Pathogenic 12526 rs111426349 GRCh37: 9:101911534-101911534
GRCh38: 9:99149252-99149252
2 TGFBR1 NM_004612.4(TGFBR1):c.806-2A>C SNV risk factor 29917 rs587776866 GRCh37: 9:101904816-101904816
GRCh38: 9:99142534-99142534
3 TGFBR1 NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) SNV risk factor 29918 rs387906697 GRCh37: 9:101908876-101908876
GRCh38: 9:99146594-99146594
4 TGFBR1 NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) SNV risk factor 29916 rs587776865 GRCh37: 9:101891193-101891193
GRCh38: 9:99128911-99128911
5 TGFBR1 NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) SNV risk factor 29915 rs387906696 GRCh37: 9:101891173-101891173
GRCh38: 9:99128891-99128891
6 TGFBR1 NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) SNV Uncertain significance 213899 rs200018073 GRCh37: 9:101900179-101900179
GRCh38: 9:99137897-99137897

UniProtKB/Swiss-Prot genetic disease variations for Multiple Self-Healing Squamous Epithelioma:

72
# Symbol AA change Variation ID SNP ID
1 TGFBR1 p.Cys41Tyr VAR_065826
2 TGFBR1 p.Asn45Ser VAR_065827 rs387906696
3 TGFBR1 p.Gly52Arg VAR_065828 rs587776865
4 TGFBR1 p.Pro83Leu VAR_065829 rs757374917

Expression for Multiple Self-Healing Squamous Epithelioma

Search GEO for disease gene expression data for Multiple Self-Healing Squamous Epithelioma.

Pathways for Multiple Self-Healing Squamous Epithelioma

Pathways related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 TGFBR2 TGFBR1 PTCH1
2
Show member pathways
11.43 TGFBR2 TGFBR1
3 11.39 TGFBR2 TGFBR1
4 11.38 TGFBR2 TGFBR1
5
Show member pathways
11.36 TGFBR2 TGFBR1
6 11.26 TGFBR2 TGFBR1
7 11.18 TGFBR2 TGFBR1
8 11.15 TGFBR2 TGFBR1
9 10.91 TGFBR2 TGFBR1
10 10.86 XPA TGFBR2 TGFBR1
11
Show member pathways
10.84 TGFBR2 TGFBR1
12 10.78 TGFBR2 TGFBR1
13 10.72 TGFBR2 TGFBR1
14 10.48 TGFBR2 TGFBR1
15 9.85 TGFBR2 TGFBR1

GO Terms for Multiple Self-Healing Squamous Epithelioma

Cellular components related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 8.62 TGFBR2 PTCH1

Biological processes related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.61 TGFBR2 TGFBR1 PTCH1
2 peptidyl-threonine phosphorylation GO:0018107 9.57 TGFBR2 TGFBR1
3 smoothened signaling pathway GO:0007224 9.56 TGFBR2 PTCH1
4 cellular response to growth factor stimulus GO:0071363 9.55 TGFBR2 TGFBR1
5 response to mechanical stimulus GO:0009612 9.54 TGFBR2 PTCH1
6 positive regulation of epithelial to mesenchymal transition GO:0010718 9.52 TGFBR2 TGFBR1
7 nucleotide-excision repair GO:0006289 9.51 XPA FANCC
8 lens development in camera-type eye GO:0002088 9.49 TGFBR2 TGFBR1
9 ventricular septum morphogenesis GO:0060412 9.48 TGFBR2 TGFBR1
10 embryonic cranial skeleton morphogenesis GO:0048701 9.46 TGFBR2 TGFBR1
11 activin receptor signaling pathway GO:0032924 9.4 TGFBR2 TGFBR1
12 pharyngeal system development GO:0060037 9.37 TGFBR1 PTCH1
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.32 TGFBR2 TGFBR1
14 pathway-restricted SMAD protein phosphorylation GO:0060389 9.26 TGFBR2 TGFBR1
15 response to cholesterol GO:0070723 9.16 TGFBR2 TGFBR1
16 regulation of growth GO:0040008 9.13 TGFBR2 TGFBR1 PTCH1
17 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.62 TGFBR2 TGFBR1

Molecular functions related to Multiple Self-Healing Squamous Epithelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.32 TGFBR2 TGFBR1
2 transforming growth factor beta binding GO:0050431 9.26 TGFBR2 TGFBR1
3 activin binding GO:0048185 9.16 TGFBR2 TGFBR1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 TGFBR2 TGFBR1
5 transforming growth factor beta-activated receptor activity GO:0005024 8.62 TGFBR2 TGFBR1

Sources for Multiple Self-Healing Squamous Epithelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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