MSPC
MCID: PLM156
MIFTS: 28

Palmoplantar Carcinoma, Multiple Self-Healing (MSPC)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Carcinoma, Multiple Self-Healing

MalaCards integrated aliases for Palmoplantar Carcinoma, Multiple Self-Healing:

Name: Palmoplantar Carcinoma, Multiple Self-Healing 57 75 29 6
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia 75 13 73
Mspc 57 75
Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome 59
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia, Formerly; Cided, Formerly 57
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia, Formerly 57
Dyskeratosis , Corneal Intraepithelial and Ectodermal Dysplasia 40
Cided, Formerly 57
Cided 75

Characteristics:

Orphanet epidemiological data:

59
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first to third decade of life
skin lesions begin with a progressive appearance of multiple ulcerative-nodular tumors on plantar skin which grow over 3 months
keratoacanthomas occur primarily in areas devoid of hair follicles and may spontaneously regress after 6 months
some patients may develop malignant tumors
homozygous mutation has been reported in two sibs in one family


HPO:

32
palmoplantar carcinoma, multiple self-healing:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Palmoplantar Carcinoma, Multiple Self-Healing

UniProtKB/Swiss-Prot : 75 Palmoplantar carcinoma, multiple self-healing: An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma.

MalaCards based summary : Palmoplantar Carcinoma, Multiple Self-Healing, also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, is related to perrault syndrome 1 and renal cell carcinoma, nonpapillary. An important gene associated with Palmoplantar Carcinoma, Multiple Self-Healing is NLRP1 (NLR Family Pyrin Domain Containing 1). Affiliated tissues include skin, lung and bone, and related phenotypes are short neck and long philtrum

OMIM : 57 Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016). (615225)

Related Diseases for Palmoplantar Carcinoma, Multiple Self-Healing

Diseases related to Palmoplantar Carcinoma, Multiple Self-Healing via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 renal cell carcinoma, nonpapillary 10.0
3 hepatitis c virus 10.0
4 hepatitis 10.0
5 limb ischemia 10.0
6 hepatitis c 10.0
7 ischemia 10.0
8 clear cell renal cell carcinoma 10.0

Graphical network of the top 20 diseases related to Palmoplantar Carcinoma, Multiple Self-Healing:



Diseases related to Palmoplantar Carcinoma, Multiple Self-Healing

Symptoms & Phenotypes for Palmoplantar Carcinoma, Multiple Self-Healing

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
palmoplantar keratoderma
follicular hyperkeratosis
atrophic scarring
pruritic hyperkeratotic scars (in some patients)
semi-confluent lichenoid papules on arms, legs, and lower trunk (in homozygotes)
more
Neoplasia:
squamous cell carcinoma
increased risk for malignant tumors
malignant lung tumors
malignant head and neck tumors
bone metastases from squamous cell carcinoma

Head And Neck Face:
long philtrum (in some patients)
maxillary decalcification (in some patients)

Skeletal Skull:
maxillary decalcification (in some patients)

Head And Neck Teeth:
alveolysis leading to tooth loss (in some patients)

Skeletal Hands:
finger joint hypermobility (in some patients)

Voice:
raspy voice (in some patients)

Head And Neck Eyes:
parakeratosis
corneal neovascularization
acanthosis
keratopathy
corneal dyskeratosis
more
Head And Neck Neck:
short neck (in some patients)

Skin Nails Hair Nails:
dystrophic nails (in some patients)
prominent thickening of nail beds (in some patients)

Head And Neck Ears:
cholesteatoma of middle ear (in homozygotes)

Respiratory Larynx:
epithelial dyskeratosis of vocal cords (in some patients)

Skin Nails Hair Skin Histology:
colloid bodies (apoptotic keratinocytes) within papillary dermis (in homozygotes)
marked epidermal hyperkeratosis
acanthosis papillomatosis
nearly absent granular layer
endophytic squamoproliferative tumor
more

Clinical features from OMIM:

615225

Human phenotypes related to Palmoplantar Carcinoma, Multiple Self-Healing:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 short neck 32 occasional (7.5%) HP:0000470
2 long philtrum 32 occasional (7.5%) HP:0000343
3 palmoplantar keratoderma 32 HP:0000982
4 parakeratosis 32 HP:0001036
5 nail dystrophy 32 occasional (7.5%) HP:0008404
6 corneal neovascularization 32 HP:0011496
7 follicular hyperkeratosis 32 HP:0007502
8 squamous cell carcinoma 32 HP:0002860
9 epidermal acanthosis 32 HP:0025092
10 amyloidosis 32 HP:0011034
11 ectodermal dysplasia 32 HP:0000968
12 finger joint hypermobility 32 occasional (7.5%) HP:0006094
13 hyperkeratosis pilaris 32 occasional (7.5%) HP:0040180
14 carcinoma 32 HP:0030731

Drugs & Therapeutics for Palmoplantar Carcinoma, Multiple Self-Healing

Search Clinical Trials , NIH Clinical Center for Palmoplantar Carcinoma, Multiple Self-Healing

Genetic Tests for Palmoplantar Carcinoma, Multiple Self-Healing

Genetic tests related to Palmoplantar Carcinoma, Multiple Self-Healing:

# Genetic test Affiliating Genes
1 Palmoplantar Carcinoma, Multiple Self-Healing 29 NLRP1

Anatomical Context for Palmoplantar Carcinoma, Multiple Self-Healing

MalaCards organs/tissues related to Palmoplantar Carcinoma, Multiple Self-Healing:

41
Skin, Lung, Bone, Eye

Publications for Palmoplantar Carcinoma, Multiple Self-Healing

Variations for Palmoplantar Carcinoma, Multiple Self-Healing

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:

75
# Symbol AA change Variation ID SNP ID
1 NLRP1 p.Met77Thr VAR_069901 rs397514692
2 NLRP1 p.Ala54Thr VAR_078798 rs105751949
3 NLRP1 p.Ala66Val VAR_078799 rs105751949

ClinVar genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP1 NM_001033053.2(NLRP1): c.230T> C (p.Met77Thr) single nucleotide variant Pathogenic rs397514692 GRCh37 Chromosome 17, 5487048: 5487048
2 NLRP1 NM_001033053.2(NLRP1): c.230T> C (p.Met77Thr) single nucleotide variant Pathogenic rs397514692 GRCh38 Chromosome 17, 5583728: 5583728
3 NLRP1 NM_001033053.2(NLRP1): c.922C> T (p.Arg308Ter) single nucleotide variant Uncertain significance rs758319723 GRCh38 Chromosome 17, 5559774: 5559774
4 NLRP1 NM_001033053.2(NLRP1): c.922C> T (p.Arg308Ter) single nucleotide variant Uncertain significance rs758319723 GRCh37 Chromosome 17, 5463094: 5463094
5 NLRP1 NM_001033053.2(NLRP1): c.160G> A (p.Ala54Thr) single nucleotide variant Pathogenic rs1057519492 GRCh38 Chromosome 17, 5583798: 5583798
6 NLRP1 NM_001033053.2(NLRP1): c.160G> A (p.Ala54Thr) single nucleotide variant Pathogenic rs1057519492 GRCh37 Chromosome 17, 5487118: 5487118
7 NLRP1 NM_033004.3(NLRP1): c.197C> T (p.Ala66Val) single nucleotide variant Likely pathogenic rs1057519493 GRCh38 Chromosome 17, 5583761: 5583761
8 NLRP1 NM_033004.3(NLRP1): c.197C> T (p.Ala66Val) single nucleotide variant Likely pathogenic rs1057519493 GRCh37 Chromosome 17, 5487081: 5487081
9 NLRP1 NM_001033053.2(NLRP1): c.2358-?_2528+?del deletion Pathogenic

Expression for Palmoplantar Carcinoma, Multiple Self-Healing

Search GEO for disease gene expression data for Palmoplantar Carcinoma, Multiple Self-Healing.

Pathways for Palmoplantar Carcinoma, Multiple Self-Healing

GO Terms for Palmoplantar Carcinoma, Multiple Self-Healing

Sources for Palmoplantar Carcinoma, Multiple Self-Healing

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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