the important things to know about the Genodermatoses are:
• | how do you make the diagnosis? (because you will often get patients referred with a note saying “rule out NF type I” etc…) |
• | what is the prognosis? (because that is what the parents will ask) |
• | what are the earliest signs and the age of onset? (because again they will often ask, “are his younger brothers going to develops this, etc…?” “rule out in NF 1 in siblings” etc…) |
• | what is the inheritance? |
• | also learn the easy ways to rule out a disease (e.g. they don’t have Gardner’s if they are over 30 and without colon CA or total colectomy) |
PEARL: In general, the genodermatosis that you have seen many cases of (e.g. neurofibromatosis, tuberous sclerosis, PCT) are autosomal dominant (obviously) and the rare diseases are recessive.
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