Palmoplantar keratoderma is the name given to a group of conditions where there is abnormal thickening of the skin on the palms of the hands and soles of the feet. Palmoplantar keratoderma is classified based on whether it is inherited or acquired and on its clinical features. <p>
Palmoplantar keratoderma (PPK) can be either acquired during the lifetime (more commonly) or inherited. Acquired PPK may arise due to changes in a person’s health or environment.
Inherited forms of PPK are caused by genetic mutations that result in abnormalities of keratin (a skin protein). These forms of PPK may be present in more than one family member. Mutations in several genes can cause an inherited form of PPK. Depending on the gene involved, inheritance can be autosomal dominant or autosomal recessive.
Autosomal dominant inheritance means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. For this reason, it is not uncommon for an autosomal dominant condition to be present in more than one generation in a family.
Autosomal recessive inheritance means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
25% chance to be affected
50% chance to be an unaffected carrier like each parent
25% chance to be unaffected and not a carrier
A person with an autosomal recessive condition can have an affected child only if the child’s other parent is at least a carrier of the same condition. In most cases, autosomal recessive conditions affect only one generation in a family, such as siblings.
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