Genetic Counseling in Inherited Blistering Diseases — Flashcards

Genetic Counseling in Inherited Blistering Diseases — Flashcards

Genetic Counseling in Inherited Blistering Diseases — Flashcards
#1

Hemidesmosomal plaque components include _____/BP230 and plectin.

#2

Blistering skin lesions are characteristic of _____

#3

Direct immunofluoresence showing granular deposits at the tips of dermal papillae points to the diagnosis of _____

#4

What is the distribution pattern of Hailey Hailey disease?_____

#5

The diagnostic hallmark of CBDC is the _____ deposition of IgA deposits at DEJ identified by direct immunofluorescence

#6

Epidermolysis bullosa _____ involves the lamina lucida of the dermis

#7

Bullous pemphigoid presents with a subepidermal blister with an _____ rich infiltrate

#8

'Dilapidated brick wall' appearance refers to widespread _____ involving the epidermis, characteristically seen in Hailey Hailey disease.

#9

Degenerated necrosed keratinocytes are seen on the Tzank smear in _____

#10

Epidermolysis bullosa _____ is associated with mutations in the genes for K5/14

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Genetic Counseling in Inherited Blistering Diseases Flashcards | Blistering Diseases Study Cards - OnCourse