Netherton Syndrome

**Definition:** Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

**Tree numbers:** - C16.131.077.619 - C16.131.831.512.400.705 - C16.320.850.673 - C16.614.492.400.705 - C17.800.428.333.250.705 - C17.800.804.512.400.705 - C17.800.827.655

**Synonyms:** - Netherton Disease