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Abbreviation : PPK
Long Form : palmoplantar keratoderma
No. Year Title Co-occurring Abbreviation
2020 A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. SAM
2020 Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. PSEK, WES
2020 Mutation in TRPV3 causes painful focal plantar keratoderma. TRPV3
2020 Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. CTSC, HMS, PLS
2020 Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment. PC
2020 Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. EGFR, mTOR, rpS6
2020 Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. EGFR, TRPV3
2019 A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma. DSP
2019 A systematic review of reported cases of pachyonychia congenita tarda. ED, PC, PCT
10  2019 Association of Transient Palmoplantar Keratoderma With Clinical and Immunologic Characteristics of Bullous Pemphigoid. BP, BPDAI, IL-1beta
11  2019 Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis. ---
12  2019 Improvement of hereditary palmoplantar keratoderma with oral trametinib. ---
13  2019 Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family. DSP, KRT1, KRT9, SPPK
14  2019 Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1alpha association and attenuate Wnt signalling. ---
15  2019 Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma. ---
16  2019 [Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe]. NPPK
17  2018 Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. PPPK
18  2018 Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features. ---
19  2018 Impact of Palmoplantar Dermatoses on Quality of Life. CDLQI, DLQI, HE, PPP, QOL
20  2018 Papillon-Lefevre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature. PLS
21  2018 Sexual Dimorphism in Response toanNRF2Inducer in a Model for PachyonychiaCongenita. KRT16, Nrf2
22  2018 SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene. MDM, SCCs
23  2018 The keratin 16 null phenotype is modestly impacted by genetic strain background in mice. PC
24  2018 Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma. ---
25  2017 A hypomorphic Egfr allele does not ameliorate the palmoplantar keratoderma caused by SLURP1 deficiency. EGFR
26  2017 A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China. MDM
27  2017 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD. DSD, FU-CRD2
28  2017 Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. CS
29  2017 Paraneoplastic palmoplantar keratoderma secondary to metastatic uterine adenocarcinoma. ---
30  2016 A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family. MDM
31  2016 Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. ---
32  2016 Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties. Cx
33  2016 Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis". ---
34  2016 Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma. EI
35  2016 Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK). ---
36  2016 Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas. ---
37  2016 Mal de Meleda: A Focused Review. uPAR
38  2016 Nagashima-type palmoplantar keratosis in a Chinese Han population. NPPK
39  2016 Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes. KRT16, NRF2-dependent, PC, RACK1
40  2016 Palmoplantar Keratoderma in Slurp2-Deficient Mice. ---
41  2016 Palmoplantar keratodermas: clinical and genetic aspects. ---
42  2016 Palmoplantar keratoses and Bowen's disease in a Vietnam veteran: Could Agent Blue be implicated? SCCIS
43  2016 Small Cell Variant of T-Cell Prolymphocytic Leukemia with Acquired Palmoplantar Keratoderma and Cutaneous Infiltration. T-PLL
44  2015 Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. ---
45  2015 Olmsted syndrome: clinical, molecular and therapeutic aspects. OS, TRPV3
46  2015 Papillon-Lefevre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis. CTSC, PLS
47  2015 Poikiloderma a varied presentation - Huriez syndrome. ---
48  2014 Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. NPPK
49  2014 No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. PSEK
50  2014 Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. ---
51  2014 Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. ---
52  2014 Palmoplantar keratoderma with progressive gingivitis and recurrent pyodermas. PLS
53  2013 Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. ---
54  2013 Collodion baby and loricrin keratoderma: a case report and mutation analysis. ---
55  2012 Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders. PC
56  2012 Palmoplantar keratoderma with growth hormone deficiency. ---
57  2012 The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. Dsc, DSP, IF
58  2011 Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. CAPK
59  2011 Palmoplantar keratoderma: an adverse reaction to influenza vaccination. ---
60  2011 Photoletter to the editor: A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. IFAP-PPK syndrome? IFAP
61  2011 [Original treatment of constitutional painful callosities by surgical excision, collagen/elastin matrix (MatriDerm()) and split thickness skin graft secured by negative wound therapy]. ---
62  2010 Efficacy and safety of a new topical keratolytic treatment for localized hyperkeratosis in adults. ---
63  2010 Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? ---
64  2010 Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. CA
65  2009 A distinct type of palmoplantar keratoderma. ---
66  2009 Hereditary palmoplantar keratodermas. ---
67  2009 Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. MDM
68  2009 Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. ---
69  2008 "Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category. ---
70  2008 Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients. MM, PLS
71  2007 Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3. ---
72  2007 Capecitabine-induced diffuse palmoplantar keratoderma: is it a sequential event of hand-foot syndrome? FU, HFS
73  2007 [Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. EPPK, KRT9
74  2006 A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. ---
75  2006 Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. DSG1
76  2006 Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region. ---
77  2005 Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome. SCCs
78  2005 Palmoplantar keratoderma is associated with esophagus squamous cell cancer in Van region of Turkey: a case control study. ESCC
79  2003 A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia. MDM
80  2003 Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. ---
81  2003 Lipid composition of outer stratum corneum in hereditary palmoplantar keratodermas. ---
82  2003 Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. MDM
83  2003 Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal de Meleda). ---
84  2002 Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma. ---
85  2002 Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips. ---
86  2002 The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Cx26
87  2002 Two siblings born preterm with large ears and hypopigmented hair who developed palmoplantar keratoderma and frontal skull bossing: a new syndrome? ---
88  2001 Mutations in the gene encoding SLURP-1 in Mal de Meleda. MDM
89  2000 Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. HMS, PLS
90  1999 Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. EPPK
91  1999 R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features. EHK
92  1998 Hereditary epidermolytic palmoplantar keratoderma (Vorner type) in a family with Ehlers-Danlos syndrome. EDS II
93  1998 Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. CAG
94  1998 Palmoplantar keratoderma and leukokeratosis anogenitalis: the second case of a new disease. ---
95  1998 Palmoplantar keratoderma associated with congenital heart disease. TAPVC
96  1997 A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases. ---
97  1997 Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. PLS
98  1997 The inherited palmoplantar keratodermas. ---
99  1996 A child with unusual palms and soles. Epidermolytic palmoplantar keratoderma (PPK) of Vorner. ---
100  1996 Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). TOC