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The Genetics of Skin Fragility
Annual Review of Genomics and Human Genetics, 2014Genetic skin fragility manifests with diminished resistance of the skin and mucous membranes to external mechanical forces and with skin blistering, erosions, and painful wounds as clinical features. Skin fragility disorders, collectively called epidermolysis bullosa, are caused by mutations in 18 distinct genes that encode proteins involved in ...
Cristina Has, Leena Bruckner-Tuderman
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Molecular and diagnostic aspects of genetic skin fragility
Journal of Dermatological Science, 2006Genetic syndromes with skin fragility represent a heterogeneous group of very rare disorders caused by mutations in genes encoding proteins or protein subunits important for the mechanical resistance of keratinocytes and for cell-cell or cell-extracellular matrix adhesion.
Cristina Has, Leena Bruckner-Tuderman
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[Syndromes with skin fragility].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 2019Syndromic disorders with skin fragility belong to different groups of genodermatoses: epidermolysis bullosa (EB), Ehlers-Danlos syndrome and porphyria. The genetic defects mainly concern structural proteins which assure the mechanical stability of the skin and other tissues.
A, Reimer, C, Has
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Diagnosis and Treatment of Skin Manifestations of Capillary Fragility
New England Journal of Medicine, 1946THIS subject is discussed under the following headings: vascular anatomy of the skin, with special reference to the site of capillary reactions; the methods of testing capillary fragility; the mech...
Samuel M Peck +2 more
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Fragility of the skin in a cat
Research in Veterinary Science, 1975Skin that showed abnormal fragility was investigated by histochemical and other methods. There was a reduction in the amount of acid glycosaminoglycan but collagen cross-linkage and electron microscopic appearance of the fibres was normal. This differs from the condition of dermatosparaxis noted in other species.
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Therapies for inherited skin fragility disorders
Experimental Dermatology, 2015AbstractInherited skin fragility comprises disorders characterized by mechanical induced blistering and erosions within the skin and mucosal membranes as a consequence of mutations in genes encoding proteins involved in intra‐epidermal or dermal–epidermal adhesion.
Has, Cristina, Kiritsi, Dimitra
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2021
The astronauts of Space Shuttle Atlantis were more than certain that 6 December 1988 would be the final day of their lives. Commander Robert ‘Hoot’ Gibson, pilot Guy Gardner and mission specialists Mike Mullane, Jerry Ross and Bill Shepherd had spent four quiet days in space, deploying a top-secret satellite for the Department of Defense. Problems with
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The astronauts of Space Shuttle Atlantis were more than certain that 6 December 1988 would be the final day of their lives. Commander Robert ‘Hoot’ Gibson, pilot Guy Gardner and mission specialists Mike Mullane, Jerry Ross and Bill Shepherd had spent four quiet days in space, deploying a top-secret satellite for the Department of Defense. Problems with
openaire +1 more source
Skin Fragility and Blister Formation
JAMA, 2011A3-YEAR-OLD GIRL NATIVE OF THE TRIBE NGOBE-BUGLE (PANAMA) WAS REferred for evaluation of a history of skin fragility and blister formation since adoption 2 years earlier. The child’s adoptive parents were unaware of the patient’s or her family’s medical history.
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