MCID: PLM029
MIFTS: 46

Palmoplantar Keratosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratosis

MalaCards integrated aliases for Palmoplantar Keratosis:

Name: Palmoplantar Keratosis 12 15 73
Palmoplantar Keratoderma 12 76 53 37 29 6
Keratoderma, Palmoplantar 53 44
Keratoderma, Palmoplantar, Diffuse 73
Keratosis Palmaris Et Plantaris 12
Keratoderma Palmoplantar 55

Classifications:



External Ids:

Disease Ontology 12 DOID:3390
ICD10 33 L85.2
MeSH 44 D007645
NCIt 50 C34748
SNOMED-CT 68 28596004
KEGG 37 H01673

Summaries for Palmoplantar Keratosis

NIH Rare Diseases : 53 Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes. In rare forms of PPK, organs other than the skin may also be affected. PPK can be either acquired during the lifetime (more commonly) or inherited. Acquired PPKs may arise due to changes in a person's health or environment. Inherited PPKs are caused by genetic mutations that result in abnormalities of keratin, a skin protein. Depending on the genetic cause, inheritance can be autosomal dominant or autosomal recessive. Treatment is aimed at softening the thickened skin to make it less noticeable and relieve discomfort.

MalaCards based summary : Palmoplantar Keratosis, also known as palmoplantar keratoderma, is related to palmoplantar keratoderma, bothnian type and palmoplantar keratoderma and woolly hair. An important gene associated with Palmoplantar Keratosis is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Acitretin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A keratosis characterized by abnormal thickening of the palms and the soles.

Wikipedia : 76 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Related Diseases for Palmoplantar Keratosis

Diseases related to Palmoplantar Keratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 237)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 34.2 KRT16 KRT9
2 palmoplantar keratoderma and woolly hair 34.1 DSP JUP
3 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 34.0 DSG1 DSP
4 naxos disease 33.5 DSP JUP
5 cardiomyopathy, dilated, with woolly hair and keratoderma 33.3 DSG1 DSP JUP
6 striate palmoplantar keratoderma 33.3 CTSC DSG1 DSP KRT1 SERPINB7
7 ichthyosis hystrix, curth-macklin type 32.8 KRT1 KRT5
8 vohwinkel syndrome 32.7 GJB2 LOR
9 erythrokeratodermia variabilis et progressiva 1 32.7 GJB2 GJB3 LOR
10 pachyonychia congenita 1 32.4 KRT16 KRT9
11 palmoplantar keratoderma, epidermolytic 32.4 KRT1 KRT16 KRT9 LOR
12 mal de meleda 31.9 KRT1 SERPINB7 SLURP1
13 palmoplantar keratoderma, nonepidermolytic 31.9 KRT1 KRT16
14 kid syndrome 31.8 GJB2 GJB3
15 ectodermal dysplasia/skin fragility syndrome 31.8 DSP JUP
16 clouston syndrome 31.6 GJB2 GJB3
17 knuckle pads 30.7 GJB2 GJB3 KRT9
18 keratosis 30.3 CTSC DSG1 DSP GJB2 KRT1 KRT9
19 darier-white disease 30.3 DSP JUP
20 ainhum 30.2 GJB2 LOR
21 keratoacanthoma 30.0 DSG1 KRT16
22 pseudoainhum 29.9 GJB2 GJB3 LOR
23 oculodentodigital dysplasia 29.9 GJB2 LOR
24 epidermolytic hyperkeratosis 29.8 KRT1 KRT16 KRT5 KRT9 LOR
25 ichthyosis 29.6 GJB2 KRT1 KRT5 LOR
26 skin disease 28.5 DSG1 DSP GJB2 GJB3 KRT1 KRT16
27 palmoplantar keratoderma, punctate type ia 12.7
28 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 12.7
29 palmoplantar keratoderma, nonepidermolytic, focal 1 12.6
30 keratosis palmaris et plantaris with clinodactyly 12.6
31 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 12.6
32 unna-thost palmoplantar keratoderma 12.6
33 palmoplantar keratoderma i, striate, focal, or diffuse 12.6
34 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 12.6
35 palmoplantar keratoderma and congenital alopecia 1 12.5
36 palmoplantar keratoderma, punctate type ii 12.5
37 palmoplantar keratoderma, nonepidermolytic, focal 2 12.5
38 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 12.5
39 autosomal dominant palmoplantar keratoderma and congenital alopecia 12.5
40 leukoencephalopathy palmoplantar keratoderma 12.5
41 palmoplantar keratoderma and congenital alopecia 2 12.5
42 keratoderma, palmoplantar, with deafness 12.4
43 palmoplantar keratoderma, punctate type iii 12.3
44 diffuse palmoplantar keratoderma, bothnian type 12.3
45 palmoplantar keratoderma of sybert 12.3
46 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.3
47 palmoplantar keratoderma, norrbotten recessive type 12.2
48 palmoplantar keratoderma, punctate type ib 12.2
49 autosomal recessive palmoplantar keratoderma and congenital alopecia 12.2
50 palmoplantar keratoderma-sclerodactyly syndrome 12.2

Graphical network of the top 20 diseases related to Palmoplantar Keratosis:



Diseases related to Palmoplantar Keratosis

Symptoms & Phenotypes for Palmoplantar Keratosis

GenomeRNAi Phenotypes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.5 JUP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.5 KRT5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.5 KRT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 JUP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.5 JUP KRT1 KRT5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.5 KRT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 KRT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.5 KRT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.5 KRT5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.5 KRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.5 KRT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.5 JUP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 KRT1

MGI Mouse Phenotypes related to Palmoplantar Keratosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.61 CTSC DSG1 DSP GJB2 JUP KRT1
2 integument MP:0010771 9.32 CTSC DSG1 DSP GJB2 GJB3 JUP

Drugs & Therapeutics for Palmoplantar Keratosis

Drugs for Palmoplantar Keratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acitretin Approved 55079-83-9 5284513 6437841
2 Dermatologic Agents
3 Keratolytic Agents
4 Contraceptives, Oral
5 Interferon-gamma
6 Contraceptive Agents
7 interferons

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
2 Cytokines in Papillon-Lefèvre Syndrome Completed NCT01116934

Search NIH Clinical Center for Palmoplantar Keratosis

Cochrane evidence based reviews: keratoderma, palmoplantar

Genetic Tests for Palmoplantar Keratosis

Genetic tests related to Palmoplantar Keratosis:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma 29

Anatomical Context for Palmoplantar Keratosis

MalaCards organs/tissues related to Palmoplantar Keratosis:

41
Skin, T Cells, Lung, Colon, Heart, Tongue, Thyroid

Publications for Palmoplantar Keratosis

Articles related to Palmoplantar Keratosis:

(show top 50) (show all 483)
# Title Authors Year
1
Palmoplantar keratoderma Bothnia type with acrokeratoelastoidosis-like features due to AQP5 mutations. ( 30221495 )
2019
2
Palmoplantar Keratoderma with Keratoconus. ( 29899652 )
2018
3
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype. ( 29494755 )
2018
4
Palmoplantar keratoderma as a presenting sign of primary biliary cirrhosis. ( 29270458 )
2018
5
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1. ( 29315490 )
2018
6
Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma. ( 29934816 )
2018
7
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. ( 29500825 )
2018
8
A novel frameshift SERPINB7 mutation in a Chinese case with Nagashima-type palmoplantar keratosis: case report and review of the literature. ( 29888455 )
2018
9
Recalcitrant acquired palmoplantar keratoderma: Think about Mycosis fungoides. ( 29903407 )
2018
10
A follow-up report of acral melanoma in a patient with Nagashima-type palmoplantar keratosis: validation of SERPINB7 mutation and local recurrence. ( 29888704 )
2018
11
Association of Transient Palmoplantar Keratoderma With Clinical and Immunologic Characteristics of Bullous Pemphigoid. ( 30484821 )
2018
12
Bullous pemphigoid with hyperkeratosis and palmoplantar keratoderma: Three cases. ( 30007013 )
2018
13
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. ( 30288772 )
2018
14
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. ( 30431684 )
2018
15
Coexistence of X-linked ichthyosis and Nagashima-type palmoplantar keratosis: A case report. ( 30004585 )
2018
16
Nagashima-type palmoplantar keratoderma and malignant melanoma in Japanese patients. ( 30256384 )
2018
17
Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum. ( 30264492 )
2018
18
Alitretinoin in punctate palmoplantar keratoderma. ( 30339730 )
2018
19
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB. ( 30451279 )
2018
20
Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families. ( 29044727 )
2018
21
Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma. ( 29068086 )
2018
22
Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma. ( 29719290 )
2018
23
CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse. ( 30195761 )
2018
24
A novel heterozygous missense mutation of the desmoglein 1 gene in a Chinese family with diffuse nonepidermolytic palmoplantar keratoderma. ( 29770786 )
2018
25
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. ( 29575617 )
2018
26
Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma. ( 29724688 )
2018
27
Linear Palmoplantar Keratoderma. ( 28673420 )
2018
28
Olmutinib-induced palmoplantar keratoderma. ( 28869782 )
2018
29
Palmoplantar keratoderma in Slurp1/Slurp2 double-knockout mice. ( 29017797 )
2018
30
Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair. ( 29138053 )
2018
31
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma. ( 29607617 )
2018
32
Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5. ( 30144154 )
2018
33
A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis. ( 30364714 )
2018
34
Familiar palmoplantar keratoderma, flaccid blisters, and widespread scaling. ( 30417061 )
2018
35
Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma. ( 30451323 )
2018
36
Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree. ( 30452289 )
2018
37
Improvement of hereditary palmoplantar keratoderma with oral trametinib. ( 30548577 )
2018
38
Multiple Primary Acral Lentiginous Melanoma on the Feet Developing in Lesions of Nagashima-type Palmoplantar Keratoderma. ( 28224164 )
2017
39
Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3). ( 29052903 )
2017
40
Three cases of Nagashima-type palmoplantar keratosis associated with atopic dermatitis: A diagnostic pitfall. ( 29168226 )
2017
41
Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis. ( 28439958 )
2017
42
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. ( 27786350 )
2017
43
[Molecular genetic study of a family affected with punctate palmoplantar keratoderma]. ( 28604957 )
2017
44
A case of lichen planus pemphigoides with palmoplantar keratoderma. ( 29160215 )
2017
45
Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin. ( 28251895 )
2017
46
PIGO deficiency: palmoplantar keratoderma and novel mutations. ( 28545593 )
2017
47
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report. ( 28512402 )
2017
48
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. ( 28871934 )
2017
49
A case report of rare palmoplantar keratosis and nail dystrophy with imatinib. ( 28189257 )
2017
50
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. ( 28295558 )
2017

Variations for Palmoplantar Keratosis

ClinVar genetic disease variations for Palmoplantar Keratosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic/Likely pathogenic rs59616921 GRCh37 Chromosome 17, 39727758: 39727758
2 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic/Likely pathogenic rs59616921 GRCh38 Chromosome 17, 41571506: 41571506
3 SASH1 NM_015278.4(SASH1): c.1849G> A (p.Glu617Lys) single nucleotide variant Likely pathogenic rs587781245 GRCh38 Chromosome 6, 148533885: 148533885
4 SASH1 NM_015278.4(SASH1): c.1849G> A (p.Glu617Lys) single nucleotide variant Likely pathogenic rs587781245 GRCh37 Chromosome 6, 148855021: 148855021
5 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh37 Chromosome 2, 219754996: 219754996
6 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh38 Chromosome 2, 218890274: 218890274
7 AAGAB NM_024666.4(AAGAB): c.451+1G> T single nucleotide variant Likely pathogenic rs1057518846 GRCh38 Chromosome 15, 67235978: 67235978
8 AAGAB NM_024666.4(AAGAB): c.451+1G> T single nucleotide variant Likely pathogenic rs1057518846 GRCh37 Chromosome 15, 67528316: 67528316

Expression for Palmoplantar Keratosis

Search GEO for disease gene expression data for Palmoplantar Keratosis.

Pathways for Palmoplantar Keratosis

Pathways related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 DSG1 DSP JUP KRT1 KRT16 KRT5
2
Show member pathways
11.68 DSG1 DSP JUP KRT1 KRT16 KRT5
3
Show member pathways
11.29 DSP KRT1 KRT16 KRT5
4 10.76 DSP JUP

GO Terms for Palmoplantar Keratosis

Cellular components related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 CTSC DSP JUP KRT1 KRT16 KRT5
2 cell junction GO:0030054 9.83 DSG1 DSP GJB2 GJB3 JUP
3 cell-cell junction GO:0005911 9.56 DSG1 DSP GJB3 JUP
4 lateral plasma membrane GO:0016328 9.54 DSG1 GJB2 JUP
5 gap junction GO:0005921 9.48 GJB2 GJB3
6 connexin complex GO:0005922 9.46 GJB2 GJB3
7 intermediate filament GO:0005882 9.43 DSP JUP KRT1 KRT16 KRT5 KRT9
8 fascia adherens GO:0005916 9.4 DSP JUP
9 desmosome GO:0030057 9.33 DSG1 DSP JUP
10 cornified envelope GO:0001533 9.02 DSG1 DSP JUP KRT1 LOR

Biological processes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 CTSC DSG1 DSP JUP KRT1
2 aging GO:0007568 9.72 CTSC GJB2 KRT16
3 cytoskeleton organization GO:0007010 9.71 KRT16 KRT5 LOR
4 cell-cell adhesion GO:0098609 9.69 DSG1 DSP JUP
5 keratinocyte differentiation GO:0030216 9.61 DSP KRT16 LOR
6 cell communication GO:0007154 9.58 GJB2 GJB3
7 adherens junction organization GO:0034332 9.58 DSP JUP
8 regulation of heart rate by cardiac conduction GO:0086091 9.57 DSP JUP
9 response to progesterone GO:0032570 9.56 DSG1 GJB2
10 epidermis development GO:0008544 9.56 DSP KRT16 KRT5 KRT9
11 keratinization GO:0031424 9.56 DSG1 DSP JUP KRT1 KRT16 KRT5
12 intermediate filament cytoskeleton organization GO:0045104 9.52 DSP KRT16
13 peptide cross-linking GO:0018149 9.5 DSP KRT1 LOR
14 establishment of skin barrier GO:0061436 9.49 KRT1 KRT16
15 intermediate filament organization GO:0045109 9.48 DSP KRT9
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.46 DSP JUP
17 skin development GO:0043588 9.46 DSP GJB3 JUP KRT9
18 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.4 DSP JUP
19 cornification GO:0070268 9.23 DSG1 DSP JUP KRT1 KRT16 KRT5

Molecular functions related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.35 DSP JUP KRT1 KRT16 LOR
2 structural constituent of epidermis GO:0030280 9.32 KRT1 LOR
3 gap junction channel activity GO:0005243 9.26 GJB2 GJB3
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.16 DSP JUP
5 structural constituent of cytoskeleton GO:0005200 9.02 DSP KRT16 KRT5 KRT9 LOR

Sources for Palmoplantar Keratosis

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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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