2005
DOI: 10.1001/archderm.141.5.625
|View full text |Cite
|
Sign up to set email alerts
|

Diffuse Nonepidermolytic Palmoplantar Keratoderma Caused by a Recurrent Nonsense Mutation in DSG1

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1
1

Citation Types

2
40
0
1

Year Published

2007
2007
2024
2024

Publication Types

Select...
6
2
2

Relationship

3
7

Authors

Journals

citations
Cited by 33 publications
(43 citation statements)
references
References 18 publications
2
40
0
1
Order By: Relevance
“…8 We have recently observed disadhesion and widening of the intercellular spaces in the involved epidermis of KPS type I, and in a case with diffuse keratoderma associated with DSG1 mutation. 10,11 Although several authors did not report this finding, 12,14 we sought to determine the consistency of our finding, which may constitute a novel histologic clue to KPS caused by DSG1 mutations. We studied the histopathology of 4 cases of PPK associated with DSG1 mutations and compared them with the histologic findings in 6 cases of PPK associated with mutations in other genes.…”
mentioning
confidence: 78%
“…8 We have recently observed disadhesion and widening of the intercellular spaces in the involved epidermis of KPS type I, and in a case with diffuse keratoderma associated with DSG1 mutation. 10,11 Although several authors did not report this finding, 12,14 we sought to determine the consistency of our finding, which may constitute a novel histologic clue to KPS caused by DSG1 mutations. We studied the histopathology of 4 cases of PPK associated with DSG1 mutations and compared them with the histologic findings in 6 cases of PPK associated with mutations in other genes.…”
mentioning
confidence: 78%
“…[105][106][107] Milingou et al 108 reported a dominantly inherited heterozygous single base insertion in exon 3 of Dsg1 (121insT) leading to a premature termination codon. Interestingly, the clinical features of patients harboring this mutation are a focal nonstriated form of PPK associated with discrete keratinization at sites exposed to mechanical trauma, such as the knees, ankles, and finger knuckles, and with mild nail dystrophy.…”
Section: Desmogleinmentioning
confidence: 99%
“…A subset of patients with striate palmoplantar keratoderma (SPPK) are DSG1 deficient, with keratinization defects resembling, to an extent, cutaneous symptoms associated with RASopathies (2,6,7,(15)(16)(17)(18). That these genetic disorders often arise from mutations in ancillary regulators of MAPK signaling highlights the importance of identifying proteins that provide the physical link between DSG1 cytoplasmic domains and the core MAPK machinery.…”
Section: Introductionmentioning
confidence: 99%