|Signs and Symptoms||Approximate number of patients (when available)|
|Neoplasm of the breast||50%|
|Neoplasm of the colon||50%|
|Neoplasm of the pancreas||50%|
|Abnormality of the nail||7.5%|
|Abnormality of the skin||-|
|Autosomal dominant inheritance||-|
Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that his/her child will inherit the condition.
Keratosis palmoplantaris papulosa shows “age dependent penetrance” and possibly “variable penetrance” as well. Age dependant penetrance means that the older the person is, the more likely they are to develop symptoms if they have inherited the disease causing gene mutation.
Variable penetrance means that not everyone who inherits the gene mutation that causes keratosis palmoplantaris papulosa develops the signs and symptoms of the condition. However this person would still be at risk of passing the disease-causing mutation to their offspring.
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I have keratosis palmoplantaris papulosa and so did my mother. Lately I have been burning off the little nodules using liquid nitrogen. Painful but it does work. Although the condition is genetic, I have been suspicious that there may be a possible exogenous trigger like a virus. Has any research been done to check whether there is any viral involvement? See answer
My father has Buschke Fischer keratoderma palmo-plantaris. Is there any treatment for this condition? See answer