Is Epidermolytic ichthyosis inherited ?
How is epidermolytic ichthyosis inherited? Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes (KRT1 or KRT10), in people with no family history of EI. However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children. Inherited cases of EI usually have an autosomal dominant inheritance pattern. This means that having a mutation in only one copy of KRT1 or KRT10 in each cell is enough to cause features of the condition. 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. Typically, EI due to a new mutation will follow autosomal dominant inheritance in subsequent generations. Very rarely, EI caused by mutations in the KRT10 gene is inherited in an autosomal recessive manner. This 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% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier.