MCID: PLM029
MIFTS: 41

Palmoplantar Keratosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratosis

MalaCards integrated aliases for Palmoplantar Keratosis:

Name: Palmoplantar Keratosis 12 14 69
Palmoplantar Keratoderma 12 72 49 36 28
Keratoderma, Palmoplantar 49 41
Keratoderma, Palmoplantar, Diffuse 69
Keratosis Palmaris Et Plantaris 12
Keratoderma Palmoplantar 51

Classifications:



External Ids:

Disease Ontology 12 DOID:3390
ICD10 32 L85.2
MeSH 41 D007645
NCIt 46 C34748
KEGG 36 H01673
UMLS 69 C0022596

Summaries for Palmoplantar Keratosis

NIH Rare Diseases : 49 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. Last updated: 12/29/2016

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 Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is integument.

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

Wikipedia : 72 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 81)
# Related Disease Score Top Affiliating Genes
1 mal de meleda 31.9 KRT9 SERPINB7 SLURP1
2 palmoplantar keratoderma, epidermolytic 31.7 KRT1 KRT16 KRT9
3 oculodentodigital dysplasia 29.9 GJB2 LOR
4 keratosis 29.7 CTSC GJB2 KRT1 KRT10 KRT9 SERPINB7
5 palmoplantar keratoderma, nonepidermolytic 29.3 CTSC GJB3 KRT1 KRT10 KRT16 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, nagashima type 11.2
11 papillon-lefevre syndrome 11.0
12 haim-munk syndrome 11.0
13 tyrosinemia, type ii 11.0
14 punctate palmoplantar keratoderma 11.0
15 odonto onycho dysplasia with alopecia 11.0
16 pinheiro freire-maia miranda syndrome 11.0
17 palmoplantar keratoderma, bothnian type 10.4 KRT1 KRT9
18 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSG1 DSP
19 epidermolysis bullosa, lethal acantholytic 10.3 DSP JUP
20 grover's disease 10.3 DSP JUP
21 cardiomyopathy, dilated, with woolly hair and keratoderma 10.3 DSP JUP
22 erythroderma, ichthyosiform, congenital reticular 10.3 KRT1 KRT10
23 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 DSP JUP
24 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 DSP JUP
25 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 DSP JUP
26 palmoplantar keratoderma and woolly hair 10.3 DSP JUP
27 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.2 KRT1 KRT10
28 ectodermal dysplasia/skin fragility syndrome 10.2 DSP JUP
29 naxos disease 10.2 DSP JUP
30 arrhythmogenic right ventricular dysplasia, familial, 9 10.2 DSP JUP
31 arrhythmogenic right ventricular dysplasia, familial, 8 10.2 DSP JUP
32 autoimmune disease of skin and connective tissue 10.2 DSG1 DSP
33 benign chronic pemphigus 10.2 DSP JUP
34 filamentary keratitis 10.2 KRT1 KRT10
35 ainhum 10.2 GJB2 LOR
36 steatocystoma multiplex 10.2 KRT10 KRT16
37 bowen's disease 10.2 KRT10 KRT16
38 darier-white disease 10.1 DSP JUP
39 squamous cell carcinoma of the oral tongue 10.1 KRT10 KRT16
40 discoid lupus erythematosus 10.1 KRT10 KRT16
41 vohwinkel syndrome 10.1 GJB2 LOR
42 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 DSP JUP
43 epidermolytic acanthoma 10.1 KRT1 KRT10 KRT9
44 acanthoma 10.1 KRT1 KRT10 KRT9
45 bullous skin disease 10.1 DSG1 DSP
46 ichthyosis vulgaris 10.0 KRT1 LOR
47 hypotrichosis-deafness syndrome 10.0 GJB2 GJB3
48 melanoma 10.0
49 dermatitis 10.0
50 deafness, autosomal recessive 93 10.0 GJB2 GJB3

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



Diseases related to Palmoplantar Keratosis

Symptoms & Phenotypes for Palmoplantar Keratosis

MGI Mouse Phenotypes related to Palmoplantar Keratosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 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 Contraceptive Agents
5 Contraceptives, Oral
6 Interferon-gamma
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 28

Anatomical Context for Palmoplantar Keratosis

MalaCards organs/tissues related to Palmoplantar Keratosis:

38
Skin

Publications for Palmoplantar Keratosis

Articles related to Palmoplantar Keratosis:

(show all 34)
# Title Authors Year
1
A case report of rare palmoplantar keratosis and nail dystrophy with imatinib. ( 28189257 )
2017
2
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. ( 28295558 )
2017
3
Three cases of Nagashima-type palmoplantar keratosis associated with atopic dermatitis: A diagnostic pitfall. ( 29168226 )
2017
4
Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis. ( 28439958 )
2017
5
Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin. ( 28251895 )
2017
6
A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7. ( 27663160 )
2016
7
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis. ( 26926003 )
2016
8
Nagashima-type palmoplantar keratosis in a Chinese Han population. ( 27666198 )
2016
9
Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in SERPINB7. ( 27506501 )
2016
10
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. ( 26763456 )
2016
11
Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis. ( 27569382 )
2016
12
Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis. ( 27543371 )
2016
13
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. ( 26453541 )
2015
14
Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7. ( 25788444 )
2015
15
Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7. ( 25940237 )
2015
16
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. ( 26334323 )
2015
17
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
18
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. ( 24514002 )
2014
19
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. ( 25029323 )
2014
20
Malignant melanoma arising in the skin lesions of Nagashima-type palmoplantar keratosis. ( 24721785 )
2014
21
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. ( 24773080 )
2014
22
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. ( 24207119 )
2013
23
Possible nagashima-type palmoplantar keratosis in two siblings. ( 23626539 )
2013
24
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. ( 22640937 )
2012
25
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. ( 21950725 )
2012
26
A familial case of Nagashima-type palmoplantar keratosis. ( 20542838 )
2010
27
Dermatitis herpetiformis Duhring with palmoplantar keratosis. ( 14674919 )
2003
28
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. ( 10581027 )
1999
29
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. ( 2260881 )
1990
30
Cardiac abnormalities in familial palmoplantar keratosis. ( 2945574 )
1986
31
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. ( 7174181 )
1982
32
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. ( 4809220 )
1974
33
[Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. ( 5562223 )
1971
34
Myasthenia with systemic lupus and palmoplantar keratosis. ( 5124413 )
1971

Variations for Palmoplantar Keratosis

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
12.77 DSG1 DSP JUP KRT1 KRT10 KRT16
2
Show member pathways
11.68 DSG1 DSP JUP KRT1 KRT10 KRT16
3
Show member pathways
11.37 DSP KRT1 KRT16
4 10.76 DSP JUP

GO Terms for Palmoplantar Keratosis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.99 CTSC KRT1 KRT10 KRT9 SERPINB7 SLURP1
2 extracellular exosome GO:0070062 9.97 CTSC DSG1 DSP JUP KRT1 KRT10
3 cell junction GO:0030054 9.85 DSG1 DSP GJB2 GJB3 JUP
4 extracellular matrix GO:0031012 9.73 DSG1 DSP JUP KRT1
5 cell-cell junction GO:0005911 9.56 DSG1 DSP GJB3 JUP
6 lateral plasma membrane GO:0016328 9.54 DSG1 GJB2 JUP
7 gap junction GO:0005921 9.49 GJB2 GJB3
8 connexin complex GO:0005922 9.48 GJB2 GJB3
9 intermediate filament GO:0005882 9.43 DSP JUP KRT1 KRT10 KRT16 KRT9
10 fascia adherens GO:0005916 9.4 DSP JUP
11 desmosome GO:0030057 9.33 DSG1 DSP JUP
12 cornified envelope GO:0001533 9.1 DSG1 DSP JUP KRT1 KRT10 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 aging GO:0007568 9.71 CTSC GJB2 KRT16
3 cell-cell adhesion GO:0098609 9.65 DSG1 DSP JUP
4 epidermis development GO:0008544 9.63 DSP KRT16 KRT9
5 keratinocyte differentiation GO:0030216 9.62 DSP KRT10 KRT16 LOR
6 response to progesterone GO:0032570 9.57 DSG1 GJB2
7 adherens junction organization GO:0034332 9.56 DSP JUP
8 peptide cross-linking GO:0018149 9.56 DSP KRT1 KRT10 LOR
9 keratinization GO:0031424 9.56 DSG1 DSP JUP KRT1 KRT10 KRT16
10 regulation of heart rate by cardiac conduction GO:0086091 9.55 DSP JUP
11 establishment of skin barrier GO:0061436 9.52 KRT1 KRT16
12 intermediate filament cytoskeleton organization GO:0045104 9.51 DSP KRT16
13 intermediate filament organization GO:0045109 9.49 DSP KRT9
14 skin development GO:0043588 9.46 DSP GJB3 JUP KRT9
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 DSP JUP
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 KRT10 KRT16

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.46 DSP KRT16 KRT9 LOR
2 gap junction channel activity GO:0005243 9.32 GJB2 GJB3
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 DSP JUP
4 structural constituent of epidermis GO:0030280 9.13 KRT1 KRT10 LOR
5 structural molecule activity GO:0005198 9.1 DSP JUP KRT1 KRT10 KRT16 LOR

Sources for Palmoplantar Keratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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