Bloom syndrome is an autosomal recessive genodermatosis in which mutations in the RECQL2 or RECQL3 genes.
What results is an issue with DNA helicase, which is responsible for unwinding DNA during replication.
Sometimes this is worded as problems with “sister chromatid exchange.”
Children with bloom syndrome have short stature, characteristic facial features (a “bird beak” nose, telangectasias on the cheeks), and a predisposition to leukemias and lymphomas, along with other cancers.
Remember Bloom syndrome with the following visual:
A pair of sisters exchanging cups with each other at their *limeade stand at your local farmers market.
A sign above them has only the “m” of BLOOm FARMS in lower case.
Diminished IgM as only the “m” is lowercase. As a bonus, remember RECQL3 (because “3” looks like a sideways lowercase “m”).
Both of the girls have braided hair to remind you of DNA helicase. You’ll also notice their sunburned red cheeks to remind you of the clinical findings.
*Note that limes are a recurring symbol in many medical visual mnemonic series for lymphomas (and sometimes leukemias).
Med-Derm, MD 