The immigration delay disease: Adermatoglyphia–inherited absence of epidermal ridges

Burger, Bettina; Fuchs, D; Sprecher, Eli; Itin, Peter

doi:10.1016/j.jaad.2009.11.013

Cited by 35 publications

(36 citation statements)

References 40 publications

(56 reference statements)

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“…A striking feature, which has never been mentioned before, is plantar keratoderma of the dissipatum type and the missing dermatoglyphs on the fingers. Presumably, the dermatoglyphs are lost secondarily as a result of the palmar keratoderma as described in other ectodermal dysplasias 13 . The heterochromia of the patient’s hair further adds to the evidence of mosaicism.…”

Section: Discussionmentioning

confidence: 94%

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

Burger

Spoerri

Schubert

et al. 2011

British Journal of Dermatology

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Ichthyosis with confetti (IWC) was first described as ichthyose en confettis and subsequently as congenital reticular ichthyosiform erythroderma. Because of the development of hundreds to thousands of pale, normal-appearing confetti-like spots during childhood, the disease was named IWC. Patients with IWC show erythroderma, prominent scaling and palmoplantar keratoderma. Our female index patient was described in 1990 as the fourth patient reported worldwide; at that time she did not show any confetti-like spots. She was periodically examined at our clinic from birth until adulthood; hence we are able to describe the natural course of IWC in detail for the first time. We furthermore identified two novel deletions in KRT10, one of them leading to a frameshift and consequently to an arginine tail of keratin 10. Our report is the first independent confirmation of the KRT10 gene defect and revertant mosaicism mechanism in patients with IWC and it expands the clinical findings.

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Section: Discussionmentioning

confidence: 94%

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

Burger

Spoerri

Schubert

et al. 2011

British Journal of Dermatology

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“…The non-frameshift variant found in the ANKRD17 gene did not co-segregate with the phenotype in this family. DISCUSSION ADG is a rare heritable disorder, which may present as an isolated feature, 3,12 but is often characterized by additional manifestations, such as skin blisters, congenital milia, hypohidrosis, nail dystrophy, palmoplantar keratoderma and contractures of digits. 1,2,4,5,10 Some complex syndromes also present similar symptoms to ADG, such as Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis or Basan syndrome.…”

Section: Sanger Sequencingmentioning

confidence: 99%

“…2 Nine pedigrees with Basan syndrome have been reported worldwide. [3][4][5][6][7][8][9][10] Recently, Marks et al 10 identified SMARCAD1 (OMIM 612761) as a promising candidate gene for Basan syndrome in an American family. This gene encodes a member of the SNF subfamily of helicase proteins.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome

Wang

et al. 2016

Eur J Hum Genet

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“…When considering biometric security universality, medical inference my dramatically affect the sample, for example suffers of adermatoglyphia, or the lack of fingerprints, will reduce fingerprints from a high to low standard, or within the interval technique a level 1 to a level 5 standard. Yet the condition is very rare with approximately four extended families suffering from it worldwide, therefore it is unlikely to be a huge factor within the security environment [5], reducing the degree of effectiveness correspondingly. Whilst this technique can have dramatic changes to the metric, it is comparatively rare.…”

Section: A Universalitymentioning

confidence: 99%

Novel Categorisation Techniques for Liveness Detection

Matthew

Anderson

2014

2014 Eighth International Conference on Next Generation Mobile Apps, Services and Technologies

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Liveness detection is a rapidly expanding research area, an area that has become more relevant, due to the increased complexity and sophistication of spoofing attacks. Despite much research within liveness detection, a lack exists regarding the categorisation of liveness detection techniques. Therefore the development of a taxonomy that identifies the characteristics of liveness detection, and creates a standardized universal measure will provide a useful and applicable approach to liveness detection. This research will focus on developing the measures needed for liveness detection characteristics. To do this, specific emphasis is given to biometric security classifications, as liveness detection is a sub-system of biometric security, and it can inherit a features that are relevant. The development of these novel liveness detection categorisation techniques is of vital importance to understand the effectiveness of liveness detection.

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The immigration delay disease: Adermatoglyphia–inherited absence of epidermal ridges

Cited by 35 publications

References 40 publications

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome

Novel Categorisation Techniques for Liveness Detection

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