Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease

2017 ◽  
Vol 173 (7) ◽  
pp. 1975-1978 ◽  
Author(s):  
Anne Ronan ◽  
Angela Ingrey ◽  
Natalia Murray ◽  
Paul Chee
Keyword(s):  
Darier Disease

Letter: Acute eruptive Darier disease

1975 ◽  
Vol 111 (9) ◽  
pp. 1215b-1215
Author(s):  
L. Sherwin
Keyword(s):  
Darier Disease

Mislocalization of Adherens Junction- Associated Proteins in a Patient with Darier Disease

2018 ◽  
Vol 2 (3) ◽  
pp. 184-201
Author(s):  
George D Glinos ◽  
Irena Pastar ◽  
Marjana Tomic-Canic ◽  
Rivka C Stone
Keyword(s):  
Adherens Junction ◽  
Cellular Adhesion ◽  
Calcium Flux ◽  
Keratinocyte Differentiation ◽  
Calcium Dependent ◽  
Endoplasmic Reticulum Calcium ◽  
Darier Disease ◽  
Associated Proteins ◽  
Attachment Proteins ◽  
E Cadherin

Darier disease (DD) is an autosomal dominant keratinizing genodermatosis that manifests clinically with red-brown pruritic papules in a seborrheic distribution often in association with palmoplantar pits and dystrophic nail changes. It is caused by mutation in ATP2A2 which encodes a sarco/endoplasmic reticulum calcium ATPase isoform 2 (SERCA2) pump that regulates calcium flux. Consequent alteration of intracellular calcium homeostasis is thought to impair trafficking of cellular adhesion proteins and to lead to aberrant keratinocyte differentiation, contributing to the characteristic histopathologic features of acantholysis and dyskeratosis in DD, though the precise mechanisms are incompletely understood. Previous studies have identified defective localization of desmosomal attachment proteins in skin biopsies and cultured keratinocytes from DD patients, but reports of effects on adherens junction proteins (including calcium-dependent E-cadherin) are conflicting. Here we describe a case of DD presenting with characteristic clinical and histologic features in which we performed immunofluorescence staining of four adherens junction-associated proteins (E-cadherin, α-catenin, β-catenin, and vinculin). In lesional (acantholytic) DD skin, we identified loss of distinctive bright membranous staining that was present at the periphery of keratinocytes throughout the epidermis in the healthy skin of a matched donor. Perilesional (non-acantholytic) portions of DD skin partially recapitulated the normal phenotype. Our findings support a role for SERCA2 dysfunction in impaired assembly of adherens junctions, which together with defective desmosomes contribute to acantholysis in DD.

scholarly journals Darier Disease

2021 ◽  
Vol 96 (3) ◽  
pp. 688-689
Author(s):  
Tejesh S. Patel ◽  
Miguel Herrera-Martinez
Keyword(s):  
Darier Disease

Darier disease complicated by disseminated zoster

2009 ◽  
Vol 15 (2) ◽  
Author(s):  
Rajesh Kandasamy ◽  
Michelle Hecker ◽  
Michael Choi ◽  
James Pile
Keyword(s):  
Darier Disease

Three novel mutations of theATP2A2gene in Chinese patients with Darier disease

2018 ◽  
Vol 60 (2) ◽  
Author(s):  
Qing Zhao ◽  
Fanghui Fu ◽  
Xi'an Fu ◽  
Zhenzhen Wang ◽  
Hong Liu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Darier Disease

Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene

2018 ◽  
Vol 44 (2) ◽  
pp. e10-e12
Author(s):  
S. Yasuno ◽  
Y. Miyoshi ◽  
N. Asano ◽  
T. Okita ◽  
M. Yamaguchi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Sporadic Case ◽  
Site Mutation ◽  
Darier Disease ◽  
Atp2a2 Gene

Successful treatment of refractory Darier disease with alitretinoin with a follow up of over a year: a case report

2016 ◽  
Vol 29 (4) ◽  
pp. 222-223 ◽  
Author(s):  
Rony Shreberk-Hassidim ◽  
Sivan Sheffer ◽  
Liran Horev ◽  
Abraham Zlotogorski ◽  
Yuval Ramot
Keyword(s):  
Case Report ◽  
Successful Treatment ◽  
Darier Disease
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