Eponymous Syndromes

Question 1

Feltys syndrome

Answer 1

Splenomegaly
Purpuric rash
Pancytopenia
Rheumatoid arthritis

Question 2

Caplans syndrome

Answer 2

Pulmonarly nodules

Rheumatoid arthritis

Question 3

Lofgrens syndrome

Answer 3

Arthralgia
Bilateral hilar lymphadenopathy
Erythema nodosum

ie. sarcoid in 3 different places

Question 4

Behcets disease

Answer 4

Small vessel vasculitis
Mouth/genital ulcers
Turkish descent

Question 5

Burkitts lymphoma

Answer 5

Very aggressive NHL

Caused by EBV/HIV

Question 6

Cowden syndrome

Answer 6

PTEN mutation

Hamartomas on mucous membranes

Question 7

DiGeorge syndrome

Answer 7

Chromosome 22 deletion
Cardiac problems
Cleft palate

Question 8

Fanconi anaemia

Answer 8

Hereditary cause of pancytopaenia

Question 9

Henoch-Schonlein purpura

Answer 9

Purpura
Arthritis
Abdo pain
IgA deposition

Question 10

Kallman syndrome

Answer 10

Failure to thrive

Anosmia

Question 11

Li-Fraumeni syndrome

Answer 11

Hereditary breast cancer
Sarcoma, leukemia, adrenal gland tumours
Screening at 20

Question 12

Marfan syndrome

Answer 12

Connective tissue disease
Long thin disposition
Cardiac problems 'aortic root disease/dissection'
Lens dislocation
Autosomal dominant, FBN1 gene

Question 13

Prader-Willi syndrome

Answer 13

Chromosome 15 dysfunction, problem with paternal allele

Obesity

Question 14

Angelman syndrome

Answer 14

Chromosome 15 dysfunction, problem with maternal allele
Happy
Water lovers

Question 15

Sjorgens syndrome

Answer 15

Connective tissue disorder

Dry eyes/mouth

Question 16

SJ syndrome

Answer 16

Cell death

Epidermis separates from dermis

Question 17

Von Hippel Lindau disease

Answer 17

Tumour suppressor dysfunction
Phaeochromocytoma
Renal cell carcinoma

Question 18

Wilsons disease

Answer 18

Copper build up in eyes

Low caeruloplasmin

Question 19

Lynch syndrome

Answer 19

Hereditary colon cancer

Problem with mismatch repair genes

Question 20

Reiters syndrome

Answer 20

Reactive Arthritis
Conjunctivitis
Urethritis