Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]
, 2020 A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K +4 more
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Dermoscopy: a useful auxiliary tool in the diagnosis of type 1 segmental Darier's disease [PDF]
, 2016 Type 1 segmental Darier's disease is a blaschkolinear variant of Darier's disease resulting from a postzygotic mosaicism. Since it usually lacks diagnostic clues typical of the generalized form, including positive family history of the disease, nail and ...
Errichetti, Enzo +3 more
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BRAF inhibitor and hairy cell leukemia-related transient acantholytic dermatosis [PDF]
, 2020 Grover disease (GD) is an acquired, nonfamilial, nonimmune mediated, transient or persistent acantholytic dermatosis. Herein, we present a 72-year-old man who had clinical and histopathologic findings of GD following two weeks of treatment with ...
Durkin, John R +3 more
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Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease [PDF]
, 2014 BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical ...
Kokkonen, E. W. J. +6 more
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Unilateral Darier’s disease – case report
Przegląd Dermatologiczny, 2017 Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease) is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12 ...
Jolanta Węgłowska +2 more
doaj +1 more source
Optimisation of recombinant production of active human cardiac SERCA2a ATPase [PDF]
, 2013 Methods for recombinant production of eukaryotic membrane proteins, yielding sufficient quantity and quality of protein for structural biology, remain a challenge.
Antaloae, Ana V. +4 more
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Aberrant lipid metabolism disrupts calcium homeostasis causing liver endoplasmic reticulum stress in obesity. [PDF]
, 2011 The endoplasmic reticulum (ER) is the main site of protein and lipid synthesis, membrane biogenesis, xenobiotic detoxification and cellular calcium storage, and perturbation of ER homeostasis leads to stress and the activation of the unfolded protein ...
AK Cardozo +33 more
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Oral leukoplakia, the ongoing discussion on definition and terminology [PDF]
, 2015 In the past decades several definitions of oral leukoplakia have been proposed, the last one, being authorized by the World Health Organization (WHO), dating from 2005.
Van der Waal, Isaäc
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Inframammary Dermatitis: A Case of Localized Late-Onset Darier’s Disease
Case Reports in Dermatology, 2016 Darier’s disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in ...
Dennis Linder +5 more
doaj +1 more source
Pseudoxanthoma elasticum and reflectance confocal microscopy: report of two affected young sisters [PDF]
, 2015 Pseudoxanthoma elasticum (PXE) is a rare inherited multisystem disorder that mainly affects skin, eyes and cardiovascular system. The associated clinical signs are due to progressive calcification of elastic fibres and blood vessels, despite normal ...
BORALDI, Federica +5 more
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