Results 141 to 150 of about 2,720 (173)
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A current and online genodermatosis database
British Journal of Dermatology, 2007Clinical dermatologists have great difficulty keeping abreast of research in genetic skin disease. This is because there is too much information, in too many places, and in an unfamiliar language. In this review we have simplified and tabulated our current knowledge of the genodermatoses. We hope this 'at a glance' online guide will help dermatologists
Leech SN, Moss C
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Classic Dowling Degos disease: a rare genodermatosis
Italian Journal of Dermatology and Venereology, 2019N ...
Piccolo, Vincenzo +5 more
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Plantar pain and thickened nails: a genodermatosis
Archives of Disease in Childhood, 2019A 7-year-old boy, of non-consanguineous parentage and developing normally, presented with painful lesions on the soles from the time he learnt to walk, even with proper footwear. There was no relevant family history. Cutaneous examination revealed focal, tender hyperkeratotic plaques on the pressure-bearing areas of the soles (figure 1).
Dibyendu Bikash Bhanja +4 more
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H syndrome: A rare genodermatosis
Journal of Cosmetic Dermatology, 2020[Abstract Not Available]
Murat Öztürk, Erhan Ayhan, Isa An
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The scleroatrophic syndrome of Huriez: a cancer-prone genodermatosis
British Journal of Dermatology, 1996We report a 24-year-old woman, her 6-year-old son and her 17-month-old daughter, who all suffer from a rare congenital genodermatosis first delineated by Huriez et al. in the 1960s. The clinical features of this autosomal dominant condition include scleroatrophy of the hands and feet, nail hypoplasia, mild palmoplantar keratoderma and hypohidrosis ...
Henning Hamm, G Kolde, E -B Brocker
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Genodermatosis: Inherited Skin Diseases
2021Genodermatoses are inherited, genetic skin conditions which can be classified into these three categories: chromosomal defect, a single gene defect or polygenetic. They may run in families (inherited skin disorders) or may occur as a result of a new mutation.
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Diagnostica molecolare delle genodermatosi
2011E passato poco piu di un ventennio dai primi approcci non clinici per la diagnosi delle malattie genetiche cutanee: in questo spazio di tempo la comunita scientifica internazionale ha coperto una distanza cosmica.
Gianluca Tadini +3 more
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Skin Necrosis in Children: Genodermatosis
The term genodermatosis comprises a large group of dermatoses caused by genetic defects, including monogenic and mosaic disorders. From the physiopathogenic point of view, various compartments of the skin can be disturbed, such as intraepidermal or epidermal-dermal adhesion, cornification, DNA repair, the vascular system, etc.
Cristina Has, Agnes Schwieger-Briel
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Delayed diagnosis of a scaling genodermatosis
BMJ Case Reports, 2023Clare Harnett +2 more
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