Keratoderma, Palmoplantar
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in four main genes, keratin 9 (KRT9), keratin 1 (KRT1), desmoglein (DSG1), and desmoplakin (DSP), have been associated with PPK.
|
31192455 |
2019 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The novel missense mutation c.3550 C>T(p.Arg1184Trp) of DSP gene expanded the mutation spectrum in palmoplantar keratoderma.
|
29607617 |
2019 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features.
|
31037311 |
2019 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We delineated three major phenotypes: the PPK-hair shaft anomalies-non-fragile skin subtype (77%), always associated with cardiac involvement; the PPK-hair shaft anomalies-skin fragility-normal cardiac function subtype (19.9%), frequently associated with PKP1 mutations; the PPK-hair shaft anomalies-skin fragility-cardiac involvement subtype (3.1%), always due to DSP mutations.
|
26399581 |
2016 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient.
|
21789513 |
2011 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.
|
17045679 |
2007 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the plakoglobin and desmoplakin genes have been identified to underlie recessive ARVC associated with woolly hair and palmoplantar keratoderma (Naxos disease), while mutations in plakophilin2, desmoglein2 as well as desmoplakin have been identified to underlie the dominant non-syndromic form.
|
16698823 |
2006 |
Keratoderma, Palmoplantar
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs.
|
12373648 |
2002 |
Keratoderma, Palmoplantar
|
0.200 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
|
9887343 |
1999 |
Keratoderma, Palmoplantar
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|