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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility† [PDF]

open access: yesBritish Journal of Dermatology, 2020
Background: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).
Cristina Has   +2 more
exaly   +5 more sources
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[Syndromes with skin fragility].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 2019
Syndromic 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
openaire   +2 more sources

Fragility of the skin in a cat

Research in Veterinary Science, 1975
Skin 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.
openaire   +2 more sources

The Shuttle’s Fragile Skin

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
openaire   +1 more source

Therapies for inherited skin fragility disorders

Experimental Dermatology, 2015
AbstractInherited 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
openaire   +3 more sources

Ectodermal Dysplasia-Skin Fragility Syndrome

Dermatologic Clinics, 2010
Pathogenic mutations have now been described in ten different desmosomal proteins: plakophilin 1 (PKP1) and 2 (PKP2); desmoplakin; plakoglobin; desmoglein 1, 2, and 4; desmocollin 2, and 3 corneodesmosin. Nevertheless, the first report of an inherited desmosomal gene disorder, published in 1997, involved loss-of-function mutations on both alleles of ...
McGrath, John A, Mellerio, Jemima E
openaire   +3 more sources

Skin Fragility and Blister Formation

JAMA, 2011
A3-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.
openaire   +2 more sources

Isotretinoin-Induced Skin Fragility in an Aerialist

Cutis
Isotretinoin is widely used for treatment of severe cystic acne; however, its use is accompanied by mucocutaneous adverse effects. The established protocol for conducting cutaneous procedures on patients undergoing current or recent treatment with isotretinoin recommends a cessation period of at least 6 months to mitigate risks for delayed wound ...
Helana, Ghali, Sharon E, Albers
openaire   +2 more sources

A 2-Year-Old Girl With Skin Fragility

JAMA Dermatology, 2015
A2-year-oldgirlwas referred toour department for skin fragility since early infancy.Shehad2olderbrothers,andthefamilyhadnomedicalhistoryofnote.Physical examination revealedmildxerosiswithsuperficial skinerosionsanderythematousresidualmaculesfrompreviouserosions.
Juan Francisco, Mir-Bonafe   +2 more
openaire   +2 more sources

Wounding Earth's Fragile Skin

Science, 2004
Soil degradation in all its nefarious forms is not a prelude to mass starvation, as analysts once feared. Nevertheless, it is eroding crop yields and contributing to malnourishment in many corners of the globe.
openaire   +1 more source

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