Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome

The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.