MCID: PLM029
MIFTS: 47

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
KEGG 37 H01673
UMLS 73 C0022596

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 mal de meleda and palmoplantar keratoderma, epidermolytic. An important gene associated with Palmoplantar Keratosis is CTSC (Cathepsin C), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Acitretin and interferons have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and tongue, 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 76)
# Related Disease Score Top Affiliating Genes
1 mal de meleda 32.1 KRT9 SERPINB7 SLURP1
2 palmoplantar keratoderma, epidermolytic 31.6 KRT1 KRT16 KRT9
3 palmoplantar keratoderma, nonepidermolytic 31.6 KRT1 KRT16 KRT9
4 oculodentodigital dysplasia 29.6 GJB2 LOR
5 keratosis 28.3 CTSC DSG1 DSP GJB2 KRT1 KRT9
6 keratosis palmaris et plantaris with clinodactyly 12.5
7 keratoderma, palmoplantar, with deafness 12.4
8 keratoderma palmoplantar spastic paralysis 12.1
9 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 12.0
10 palmoplantar keratoderma, punctate type ia 11.8
11 haim-munk syndrome 11.2
12 palmoplantar keratoderma, nagashima type 11.2
13 papillon-lefevre syndrome 11.0
14 tyrosinemia, type ii 11.0
15 punctate palmoplantar keratoderma 11.0
16 odonto onycho dysplasia with alopecia 11.0
17 pinheiro freire-maia miranda syndrome 11.0
18 ichthyosis hystrix, curth-macklin type 10.7 KRT1 KRT5
19 epidermolytic acanthoma 10.7 KRT1 KRT9
20 acanthoma 10.6 KRT1 KRT9
21 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.5 DSG1 DSP
22 osteofibrous dysplasia 10.4 KRT1 KRT5
23 hypotrichosis-deafness syndrome 10.4 GJB2 GJB3
24 autoimmune disease of skin and connective tissue 10.3 DSG1 DSP
25 deafness, autosomal recessive 93 10.3 GJB2 GJB3
26 kid syndrome 10.3 GJB2 GJB3
27 grover's disease 10.3 DSP JUP
28 deafness, autosomal recessive 28 10.3 GJB2 GJB3
29 epidermolysis bullosa, lethal acantholytic 10.3 DSP JUP
30 hodgkin's lymphoma, nodular sclerosis 10.3 GJB2 GJB3
31 cardiomyopathy, dilated, with woolly hair and keratoderma 10.3 DSP JUP
32 bullous skin disease 10.3 DSG1 DSP
33 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 DSP JUP
34 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 DSP JUP
35 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 DSP JUP
36 palmoplantar keratoderma and woolly hair 10.2 DSP JUP
37 deafness, autosomal recessive 1a 10.2 GJB2 GJB3
38 naxos disease 10.2 DSP JUP
39 ectodermal dysplasia/skin fragility syndrome 10.2 DSP JUP
40 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB2 GJB3
41 arrhythmogenic right ventricular dysplasia, familial, 9 10.2 DSP JUP
42 arrhythmogenic right ventricular dysplasia, familial, 8 10.2 DSP JUP
43 pachyonychia congenita 1 10.2 KRT16 KRT9
44 benign chronic pemphigus 10.2 DSP JUP
45 vestibular disease 10.2 GJB2 GJB3
46 darier-white disease 10.1 DSP JUP
47 deafness, autosomal recessive 67 10.1 GJB2 GJB3
48 melanoma 10.1
49 white sponge nevus 1 10.0 KRT1 KRT16 KRT9
50 skin benign neoplasm 10.0 KRT1 KRT5

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 SLURP1 CTSC DSG1 DSP GJB2 JUP
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 6437841 5284513
2 interferons
3 Contraceptive Agents
4 Contraceptives, Oral
5 Dermatologic Agents
6 Interferon-gamma
7 Keratolytic Agents

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, Tongue, Thyroid, Colon, Lung, Heart

Publications for Palmoplantar Keratosis

Articles related to Palmoplantar Keratosis:

(show top 50) (show all 430)
# Title Authors Year
1
Palmoplantar Keratoderma with Keratoconus. ( 29899652 )
2018
2
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype. ( 29494755 )
2018
3
Palmoplantar keratoderma as a presenting sign of primary biliary cirrhosis. ( 29270458 )
2018
4
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1. ( 29315490 )
2018
5
Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma. ( 29934816 )
2018
6
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. ( 29500825 )
2018
7
A novel frameshift SERPINB7 mutation in a Chinese case with Nagashima-type palmoplantar keratosis: case report and review of the literature. ( 29888455 )
2018
8
Recalcitrant acquired palmoplantar keratoderma: Think about Mycosis fungoides. ( 29903407 )
2018
9
A follow-up report of acral melanoma in a patient with Nagashima-type palmoplantar keratosis: validation of SERPINB7 mutation and local recurrence. ( 29888704 )
2018
10
Multiple Primary Acral Lentiginous Melanoma on the Feet Developing in Lesions of Nagashima-type Palmoplantar Keratoderma. ( 28224164 )
2017
11
Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3). ( 29052903 )
2017
12
Three cases of Nagashima-type palmoplantar keratosis associated with atopic dermatitis: A diagnostic pitfall. ( 29168226 )
2017
13
Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis. ( 28439958 )
2017
14
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. ( 27786350 )
2017
15
[Molecular genetic study of a family affected with punctate palmoplantar keratoderma]. ( 28604957 )
2017
16
A case of lichen planus pemphigoides with palmoplantar keratoderma. ( 29160215 )
2017
17
Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin. ( 28251895 )
2017
18
PIGO deficiency: palmoplantar keratoderma and novel mutations. ( 28545593 )
2017
19
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report. ( 28512402 )
2017
20
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. ( 28871934 )
2017
21
A case report of rare palmoplantar keratosis and nail dystrophy with imatinib. ( 28189257 )
2017
22
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. ( 28295558 )
2017
23
Erythema elevatum diutinum presenting with palmoplantar keratoderma. ( 28512994 )
2017
24
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation. ( 28872160 )
2017
25
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening. ( 27534273 )
2017
26
Keratoacanthoma, palmoplantar keratoderma developing in an advanced melanoma patient treated with vemurafenib regressed by blockade of mitogen-activated protein kinase kinase signaling. ( 28439948 )
2017
27
Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. ( 28239884 )
2017
28
Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties. ( 26763442 )
2016
29
Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma. ( 27617465 )
2016
30
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK). ( 27316387 )
2016
31
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation. ( 27864007 )
2016
32
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. ( 26763456 )
2016
33
Small Cell Variant of T-Cell Prolymphocytic Leukemia with Acquired Palmoplantar Keratoderma and Cutaneous Infiltration. ( 26813734 )
2016
34
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. ( 26608363 )
2016
35
Nagashima-type palmoplantar keratosis in a Chinese Han population. ( 27666198 )
2016
36
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. ( 27255181 )
2016
37
A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7. ( 27663160 )
2016
38
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis. ( 26926003 )
2016
39
Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. ( 26032342 )
2016
40
Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing. ( 27510574 )
2016
41
Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis. ( 27569382 )
2016
42
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. ( 28008647 )
2016
43
Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis. ( 27543371 )
2016
44
Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in SERPINB7. ( 27506501 )
2016
45
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. ( 26453541 )
2015
46
Papillon-LA"fevre syndrome with palmoplantar keratoderma and periodontitis, a rare cause of pyrexia of unknown origin: a case report. ( 26683691 )
2015
47
Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma. ( 25429721 )
2015
48
Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work. ( 25919143 )
2015
49
Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations. ( 26493105 )
2015
50
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. ( 26334323 )
2015

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 AAGAB NM_024666.4(AAGAB): c.451+1G> T single nucleotide variant Likely pathogenic rs1057518846 GRCh38 Chromosome 15, 67235978: 67235978
6 AAGAB NM_024666.4(AAGAB): c.451+1G> T single nucleotide variant Likely pathogenic rs1057518846 GRCh37 Chromosome 15, 67528316: 67528316
7 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh37 Chromosome 2, 219754996: 219754996
8 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh38 Chromosome 2, 218890274: 218890274

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 9.91 CTSC DSG1 DSP JUP KRT1 KRT16
2 cell junction GO:0030054 9.83 DSG1 DSP GJB2 GJB3 JUP
3 cell-cell junction GO:0005911 9.62 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 17)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 CTSC DSG1 DSP JUP KRT1
2 cytoskeleton organization GO:0007010 9.71 KRT16 KRT5 LOR
3 aging GO:0007568 9.7 CTSC GJB2 KRT16
4 cell-cell adhesion GO:0098609 9.65 DSG1 DSP JUP
5 keratinocyte differentiation GO:0030216 9.61 DSP KRT16 LOR
6 response to progesterone GO:0032570 9.57 DSG1 GJB2
7 adherens junction organization GO:0034332 9.56 DSP JUP
8 epidermis development GO:0008544 9.56 DSP KRT16 KRT5 KRT9
9 keratinization GO:0031424 9.56 DSG1 DSP JUP KRT1 KRT16 KRT5
10 regulation of heart rate by cardiac conduction GO:0086091 9.55 DSP JUP
11 intermediate filament cytoskeleton organization GO:0045104 9.51 DSP KRT16
12 peptide cross-linking GO:0018149 9.5 DSP KRT1 LOR
13 intermediate filament organization GO:0045109 9.49 DSP KRT9
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.46 DSP JUP
15 skin development GO:0043588 9.46 DSP GJB3 JUP KRT9
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.4 DSP JUP
17 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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