MCID: PLM156
MIFTS: 28

Palmoplantar Carcinoma, Multiple Self-Healing

Categories: Genetic diseases, Eye diseases, Rare diseases, Cancer 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 renal cell carcinoma, nonpapillary and hepatitis c virus. 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 long philtrum and short neck

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 renal cell carcinoma, nonpapillary 9.8
2 hepatitis c virus 9.8
3 hepatitis 9.8
4 limb ischemia 9.8
5 hepatitis c 9.8
6 ischemia 9.8
7 clear cell renal cell carcinoma 9.8
8 aneurysm 9.8

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

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 rs1057519492Palmoplantar
3 NLRP1 p.Ala66Val VAR_078799 rs1057519493Palmoplantar

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

Cosmic variations for Palmoplantar Carcinoma, Multiple Self-Healing:

9
(show top 50) (show all 360)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM11183 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.799C>T p.R267W 17:7673821-7673821 8
2 COSM10705 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
3 COSM43753 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 8
4 COSM44135 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 8
5 COSM44218 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>C p.H179P 17:7675076-7675076 8
6 COSM10863 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 8
7 COSM10889 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>G p.H179R 17:7675076-7675076 8
8 COSM44495 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.559+2T>A p.? 17:7675051-7675051 8
9 COSM10726 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
10 COSM44523 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.863A>G p.N288S 17:7673757-7673757 8
11 COSM10659 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.817C>T p.R273C 17:7673803-7673803 8
12 COSM44544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 8
13 COSM10662 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 8
14 COSM11066 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.578A>T p.H193L 17:7674953-7674953 8
15 COSM6903923 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.356C>T p.A119V 17:7676013-7676013 8
16 COSM10731 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.707A>G p.Y236C 17:7674256-7674256 8
17 COSM43952 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.710T>A p.M237K 17:7674253-7674253 8
18 COSM44023 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560G>A p.G187D 17:7674971-7674971 8
19 COSM44151 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.535C>A p.H179N 17:7675077-7675077 8
20 COSM43544 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8
21 COSM10812 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.722C>T p.S241F 17:7674241-7674241 8
22 COSM10648 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 8
23 COSM44393 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.821T>C p.V274A 17:7673799-7673799 8
24 COSM11451 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.672G>T p.E224D 17:7674859-7674859 8
25 COSM45765 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.987C>A p.T329T 17:7673541-7673541 8
26 COSM10654 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 8
27 COSM10725 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.701A>G p.Y234C 17:7674262-7674262 8
28 COSM45114 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.702C>A p.Y234* 17:7674261-7674261 8
29 COSM43995 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.740A>T p.N247I 17:7674223-7674223 8
30 COSM6970765 PTPRD skin,scalp,carcinoma,squamous cell carcinoma c.2471C>T p.P824L 9:8486346-8486346 8
31 COSM163485 PIK3CA skin,scalp,carcinoma,squamous cell carcinoma c.311C>T p.P104L 3:179199136-179199136 8
32 COSM6903911 NRAS skin,scalp,carcinoma,squamous cell carcinoma c.332T>A p.M111K 1:114709687-114709687 8
33 COSM573 NRAS skin,scalp,carcinoma,squamous cell carcinoma c.38G>A p.G13D 1:114716123-114716123 8
34 COSM6903859 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4358G>A p.G1453D 1:119925458-119925458 8
35 COSM6903876 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 8
36 COSM6903874 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5164A>G p.S1722G 1:119922285-119922285 8
37 COSM6903856 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4006G>A p.G1336R 1:119925810-119925810 8
38 COSM6903890 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5930G>A p.G1977E 1:119917762-119917762 8
39 COSM6903983 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3052A>G p.T1018A 1:119940686-119940686 8
40 COSM6903862 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4509C>A p.C1503* 1:119925307-119925307 8
41 COSM6903883 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5653G>A p.A1885T 1:119919440-119919440 8
42 COSM6903843 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.2891G>A p.C964Y 1:119941616-119941616 8
43 COSM6903868 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4860-1G>A p.? 1:119922779-119922779 8
44 COSM6903878 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5480A>T p.D1827V 1:119919613-119919613 8
45 COSM6903881 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5630G>A p.G1877D 1:119919463-119919463 8
46 COSM6903864 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.4570A>G p.S1524G 1:119923926-119923926 8
47 COSM6903831 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.1738C>T p.H580Y 1:119963751-119963751 8
48 COSM6903826 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.1319T>G p.F440C 1:119967567-119967567 8
49 COSM1667036 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 8
50 COSM6903863 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4510A>G p.K1504E 1:119925306-119925306 8

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

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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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