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Genodermatoses

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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 dont have Gardners 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.