Kodachromes

Question 1

Name of condition and referral?

Answer 1

Riga-Fede Disease; benign ulcerative granulomatous condition at avg of 12 months due to chronic repetitive trauma of oral mucosa by teeth. Referral to NEURO warranted if doesn’t resolve because can have underlying developmental delay / neurologic disorder

Question 2

Name of condition? Path finding if lip biopsied?

Answer 2

Melkersson-Rosenthal; granulomatous inflammation of lips (+ fissured tongue and facial nerve palsy)

Question 3

Name of condition? Infectious association? Treatment?

Answer 3

Hydroa-Vacciniforme; can be associated with latent EBV infection (there is an EBV-assoc lymphoma with similar findings); treatment is photoprotection as it is refractory to other treatments

Question 4

What diseases are transmitted by this vector (2) ?

Answer 4

Aedes Mosquito

Yellow Fever, Dengue Fever

Question 5

What disease is transmitted by this vector (1) ?

Answer 5

Malaria

Question 6

What virus may be associated with this condition? Is it expected to resolve?

Answer 6

Condition = Hydroa Vacciniforme

EBV virus may be associated

Resolves in late teens or 20s; leaves vacciniform scars

Question 7

What immune deficiencies are expected?

Is this patient at increased risk of malignancy?

Diagnostic finding?

Answer 7

Condition = Bloom Syndrome

Decreased IgA, IgM and sometimes IgG

300X increased incidence of leukemia, lymphoma, GI cancers

Quadrilateral configurations in lymphocytes and fibroblasts = diagnostic finding

Mutation = RecQL3

Question 8

What is the mutation?

What malignancy is patient at risk for?

Expected immune function and lifespan?

Answer 8

Condition = Rothmund-Thomson Syndrome (RecQL4)

Malignancy: Osteosarcoma in 25%, SCC 5%

Normal immune function, intelligence and lifespan.

Features: poikiloderma of cheeks/forearms/hands/buttocks; sparse hair, hypoplastic nails, short statute, skeletal/dental anomalies, cataracts, chronic N/V, pituitary hypogonadism