MCID: PLM159
MIFTS: 27

Palmoplantar Keratoderma, Punctate Type Ia

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Punctate Type Ia

MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Ia:

Name: Palmoplantar Keratoderma, Punctate Type Ia 57
Keratosis Palmoplantaris Papulosa 57 53 75 29 6 73
Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type 57 53 59
Ppkp1 57 59 75
Keratoderma, Palmoplantar, Punctate Type Ia 57 13
Punctate Palmoplantar Keratoderma Type I 53 75
Punctate Palmoplantar Keratoderma Type 1 53 59
Ppkp1a 57 75
Kppp1 57 75
Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type 75
Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type 75
Palmoplantar Keratoderma, Punctate Type I; Ppkp1 57
Keratoderma, Palmoplantar, Punctate, Type Ia 40
Palmoplantar Keratoderma, Punctate Type I 57
Punctate Palmoplantar Keratoderma Type 1a 12
Keratoderma, Palmoplantar Punctate Type 1 53
Punctate Palmoplantar Keratoderma Type Ia 75
Type I Punctate Palmoplantar Keratoderma 53
Keratoderma, Palmoplantar, Punctate 1a 75
Brauer-Buschke-Fischer Syndrome 53
Buschke-Fischer-Brauer Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
punctate palmoplantar keratoderma type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Croatia),1-9/100000 (Slovenia); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant
heterogeneous


HPO:

32
palmoplantar keratoderma, punctate type ia:
Onset and clinical course late onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Palmoplantar Keratoderma, Punctate Type Ia

OMIM : 57 Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by Giehl et al., 2012). Another form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; 614936). Other forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; 175860) and focal acrohyperkeratosis (PPKP3; 101850). For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). (148600)

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ia, also known as keratosis palmoplantaris papulosa, is related to punctate palmoplantar keratoderma and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ia is AAGAB (Alpha And Gamma Adaptin Binding Protein). Affiliated tissues include skin, colon and pancreas, and related phenotypes are abnormality of the nail and palmoplantar keratoderma

NIH Rare Diseases : 53 Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma. Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain in some people. The condition is usually inherited in an autosomal dominant manner and can be caused by a mutation in the AAGAB gene. Treatment options may include removal of the thickened skin by a doctor or using a cream on the affected area. Some people have used surgical approaches consisting of excision and skin grafting.

UniProtKB/Swiss-Prot : 75 Keratoderma, palmoplantar, punctate 1A: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma.

Related Diseases for Palmoplantar Keratoderma, Punctate Type Ia

Diseases in the Punctate Palmoplantar Keratoderma family:

Palmoplantar Keratoderma, Punctate Type Iii Palmoplantar Keratoderma, Punctate Type Ia
Palmoplantar Keratoderma, Punctate Type Ii Palmoplantar Keratoderma, Punctate Type Ib

Diseases related to Palmoplantar Keratoderma, Punctate Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 punctate palmoplantar keratoderma 28.6 AAGAB COL14A1
2 palmoplantar keratosis 10.1
3 type i 10.1

Symptoms & Phenotypes for Palmoplantar Keratoderma, Punctate Type Ia

Symptoms via clinical synopsis from OMIM:

57
Misc:
late onset
females less severely affected

Skin:
keratodermia palmoplantaris papulosa


Clinical features from OMIM:

148600

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ia:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 renal cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0005584
4 colon cancer 59 32 frequent (33%) Frequent (79-30%) HP:0003003
5 breast carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0003002
6 neoplasm of the pancreas 59 32 frequent (33%) Frequent (79-30%) HP:0002894
7 hodgkin lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0012189
8 transitional cell carcinoma of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0006740
9 abnormality of the skin 32 HP:0000951

Drugs & Therapeutics for Palmoplantar Keratoderma, Punctate Type Ia

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Punctate Type Ia

Genetic Tests for Palmoplantar Keratoderma, Punctate Type Ia

Genetic tests related to Palmoplantar Keratoderma, Punctate Type Ia:

# Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Papulosa 29 AAGAB

Anatomical Context for Palmoplantar Keratoderma, Punctate Type Ia

MalaCards organs/tissues related to Palmoplantar Keratoderma, Punctate Type Ia:

41
Skin, Colon, Pancreas

Publications for Palmoplantar Keratoderma, Punctate Type Ia

Articles related to Palmoplantar Keratoderma, Punctate Type Ia:

# Title Authors Year
1
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. ( 29500825 )
2018

Variations for Palmoplantar Keratoderma, Punctate Type Ia

ClinVar genetic disease variations for Palmoplantar Keratoderma, Punctate Type Ia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AAGAB AAGAB, 4-BP DEL, NT200 deletion Pathogenic
2 AAGAB AAGAB, IVS, G-A, +1 single nucleotide variant Pathogenic
3 AAGAB AAGAB, 1-BP DEL, NT473 deletion Pathogenic
4 AAGAB NM_001271885.1(AAGAB): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs746488412 GRCh38 Chromosome 15, 67231868: 67231868
5 AAGAB NM_001271885.1(AAGAB): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs746488412 GRCh37 Chromosome 15, 67524206: 67524206
6 AAGAB NM_001271885.1(AAGAB): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs200564757 GRCh37 Chromosome 15, 67528398: 67528398
7 AAGAB NM_001271885.1(AAGAB): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs200564757 GRCh38 Chromosome 15, 67236060: 67236060
8 AAGAB AAGAB, 2-BP DEL, 348AG deletion Pathogenic

Expression for Palmoplantar Keratoderma, Punctate Type Ia

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Punctate Type Ia.

Pathways for Palmoplantar Keratoderma, Punctate Type Ia

GO Terms for Palmoplantar Keratoderma, Punctate Type Ia

Sources for Palmoplantar Keratoderma, Punctate Type Ia

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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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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