GENETIC DISEASES OR GENODERMATOSES
By Gary M. White, MD
There is an explosion of knowledge about genetic syndromes and their causes. The truth is you can't memorize them all. But you don't have to! You just need to:
- Know when to suspect a genetic disease.
- Describe the skin findings, e.g., capillary malformation, cafe au lait macule, etc.
- Search OMIM or Google Scholar for immediate results.
When to Suspect Genetic Diseases
- Are there two or more unusual findings, e.g., CALM and macrocephaly?
- Is there a family history? "Dad had the same thing."
- Is the child not developing normally?
- Does the child have dystrophic features?
If the answer to any of these questions is yes, suspect a genetic disease.
Online Resources Are Key
Unusual Skin Lesions
To most effectively use the online search resources you need to know some unusual skin finding in these syndromes, e.g., Reticulate port wine stain
Note: port wine stain = capillary malformation.
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