Genetic Counseling in Inherited Blistering Diseases — Flashcards

Flashcard 1: Hemidesmosomal plaque components include _____/BP230 and plectin.

Answer: BPAg1

Flashcard 2: Blistering skin lesions on sun-exposed skin (e.g., dorsum of hands) are characteristic of:

Answer: Porphyria cutanea tarda

Flashcard 3: Direct immunofluoresence showing granular deposits at the tips of dermal papillae points to the diagnosis of _____

Answer: dermatitis herpetiformis

Flashcard 4: What is the distribution pattern of Hailey Hailey disease?_____

Answer: Intertriginous

Flashcard 5: The diagnostic hallmark of CBDC is the _____ deposition of IgA deposits at DEJ identified by direct immunofluorescence

Answer: linear

Flashcard 6: Epidermolysis bullosa _____ involves cleavage within the lamina lucida

Answer: junctionalis (junctional)

Extra: Levels of cleavage in Epidermolysis Bullosa (EB): • EB Simplex: Intraepidermal (basal cell layer) • Junctional EB: Lamina lucida • Dystrophic EB: Sub-lamina densa • EB Acquisita: Sub-lamina densa (autoimmune)

Flashcard 7: Bullous pemphigoid presents with a subepidermal blister with an _____ rich infiltrate

Answer: eosinophil

Flashcard 8: 'Dilapidated brick wall' appearance refers to widespread _____ involving the epidermis, characteristically seen in Hailey Hailey disease.

Answer: acantholysis

Flashcard 9: Degenerated necrosed keratinocytes are seen on the Tzanck smear in _____

Answer: Toxic epidermal necrolysis

Flashcard 10: Epidermolysis bullosa _____ is associated with mutations in the genes for K5/14

Answer: simplex