Multi-system Conditons and Syndromes

Question 1

GPA

Answer 1

Multisystem necrotising non-caseating granulomatous c-ANCA positive vasculitis affecting small to medium-sized arteries, capillaries, and veins, with a predilection for the respiratory system and kidneys.

Epistaxis, haemoptysis, haematuria

Question 2

Cowden Syndrome

Answer 2

Multiple hamartoma syndrome

GI polyps
Fibrocystic breast disease
Fibroids

Plus-
Breast cancer
Thyroid cancer
Endometrial Cancer
Dysplasia cetebellar gangliocytoma (Lhermitte Duclos)

Question 3

Gardener Syndrome

Answer 3

Polyposis syndrome

FAP
Multiple osteomas
Epidermal cysts
Desmond tumour of mesentey
Dentigerous cysts, supernumerary teeth

Question 4

Lemierre Syndrome

Answer 4

Thrombophlebitis of the IJV with distant metastatic anaerobic septicaemia int he setting of initial bacterial oropharyngeal infection e.g. pharyngitis/tonsillitis